Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 100130988 |
| ensemblid | ENSG00000164500.7 |
| hgncid | 22564 |
| symbol | SPATA48 |
| name | sperm microtubule inner protein 7 |
| refseq_nuc | NM_001161834.3 |
| refseq_prot | NP_001155306.3 |
| ensembl_nuc | ENST00000297001.7 |
| ensembl_prot | ENSP00000297001.7 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 50095883 |
| end | 50159256 |
| strand | + |
| ver | v1.2 |
| region | chr7:50095883-50159256 |
| region5000 | chr7:50090883-50164256 |
| regionname0 | SPATA48_chr7_50095883_50159256 |
| regionname5000 | SPATA48_chr7_50090883_50164256 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 438 | 138 | 43 | 28 | 48 | 7 | 11 | 35 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0002 | 0/0 | 438 | 89 | 17 | 23 | 26 | 6 | 17 | 19 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0003 | 1/0 | 438 | 66 | 15 | 15 | 20 | 3 | 12 | 16 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0004 | 0/0 | 438 | 26 | 16 | 0 | 2 | 0 | 8 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0005 | 0/0 | 438 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0006 | 0/0 | 438 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0007 | 0/0 | 438 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0008 | 0/0 | 438 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0009 | 0/0 | 438 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0010 | 0/0 | 438 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| a0011 | 0/0 | 438 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | MDVEI others(433): Show |
chr7 | 50090883 | 50164256 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 1314 | 138 | 43 | 28 | 48 | 7 | 11 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0002c0002 | 0/0 | 1314 | 71 | 6 | 23 | 24 | 5 | 13 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0002c0005 | 0/0 | 1314 | 16 | 11 | 0 | 0 | 1 | 4 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0002c0010 | 0/0 | 1314 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0003c0003 | 1/0 | 1314 | 62 | 11 | 15 | 20 | 3 | 12 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0003c0006 | 0/0 | 1314 | 4 | 4 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0004c0004 | 0/0 | 1314 | 23 | 16 | 0 | 0 | 0 | 7 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0004c0007 | 0/0 | 1314 | 3 | 0 | 0 | 2 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0005c0009 | 0/0 | 1314 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0006c0008 | 0/0 | 1314 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0007c0011 | 0/0 | 1314 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0008c0014 | 0/0 | 1314 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0009c0012 | 0/0 | 1314 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0010c0013 | 0/0 | 1314 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 | ||
| a0011c0015 | 0/0 | 1314 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATGGA others(1309): Show |
chr7 | 50090883 | 50164256 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 1607 | 127 | 40 | 23 | 48 | 4 | 11 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0001c0001t0002 | 0/0 | 1607 | 9 | 1 | 5 | 0 | 3 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0001c0001t0004 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0001c0001t0005 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0002c0002t0001 | 0/0 | 1607 | 66 | 1 | 23 | 24 | 5 | 13 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0002c0002t0003 | 0/0 | 1607 | 5 | 5 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0002c0005t0001 | 0/0 | 1607 | 16 | 11 | 0 | 0 | 1 | 4 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0002c0010t0001 | 0/0 | 1607 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0003c0003t0001 | 1/0 | 1607 | 62 | 11 | 15 | 20 | 3 | 12 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0003c0006t0001 | 0/0 | 1607 | 4 | 4 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0004c0004t0001 | 0/0 | 1607 | 23 | 16 | 0 | 0 | 0 | 7 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0004c0007t0001 | 0/0 | 1607 | 3 | 0 | 0 | 2 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0005c0009t0002 | 0/0 | 1607 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0006c0008t0001 | 0/0 | 1607 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0007c0011t0001 | 0/0 | 1607 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0008c0014t0004 | 0/0 | 1607 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0009c0012t0001 | 0/0 | 1607 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0010c0013t0001 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| a0011c0015t0001 | 0/0 | 1607 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | ATTGC others(1602): Show |
chr7 | 50090883 | 50164256 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0115 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0002 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0004g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0005g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0006 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0255 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0303 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0307 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0010t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0010t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0012 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0013 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0014 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0016 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0017 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0018 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0019 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0245 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0270 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0271 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0281 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0286 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0005c0009t0002g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0006c0008t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0006c0008t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0007c0011t0001g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0008c0014t0004g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0009c0012t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0010c0013t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0011c0015t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0002 | c0002 | t0001 | g0092 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0151 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00140 | hp1 | a0003 | c0003 | t0001 | g0248 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0114 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00280 | hp1 | a0002 | c0005 | t0001 | g0255 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0173 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0084 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0148 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00423 | hp1 | a0002 | c0002 | t0001 | g0099 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00597 | hp1 | a0002 | c0002 | t0001 | g0076 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00609 | hp2 | a0002 | c0002 | t0001 | g0240 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0134 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00642 | hp1 | a0003 | c0003 | t0001 | g0017 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00642 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00733 | hp1 | a0005 | c0009 | t0002 | g0007 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00733 | hp2 | a0003 | c0003 | t0001 | g0282 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0126 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00738 | hp1 | a0003 | c0003 | t0001 | g0247 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0083 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0046 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01070 | hp2 | a0003 | c0003 | t0001 | g0014 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01071 | hp2 | a0003 | c0003 | t0001 | g0014 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01074 | hp1 | a0003 | c0003 | t0001 | g0295 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01081 | hp2 | a0002 | c0002 | t0001 | g0049 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0163 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0132 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01106 | hp1 | a0002 | c0002 | t0001 | g0085 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01106 | hp2 | a0003 | c0003 | t0001 | g0072 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01109 | hp2 | a0007 | c0011 | t0001 | g0268 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01167 | hp1 | a0003 | c0003 | t0001 | g0292 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01167 | hp2 | a0003 | c0003 | t0001 | g0017 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01168 | hp1 | a0003 | c0003 | t0001 | g0290 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01168 | hp2 | a0002 | c0002 | t0001 | g0077 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01175 | hp1 | a0002 | c0002 | t0001 | g0089 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01175 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01192 | hp1 | a0003 | c0003 | t0001 | g0246 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0152 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01243 | hp2 | a0002 | c0002 | t0001 | g0065 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01255 | hp1 | a0005 | c0009 | t0002 | g0007 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01255 | hp2 | a0002 | c0002 | t0001 | g0053 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01256 | hp1 | a0002 | c0002 | t0001 | g0059 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01256 | hp2 | a0003 | c0003 | t0001 | g0016 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01257 | hp1 | a0003 | c0003 | t0001 | g0291 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01257 | hp2 | a0002 | c0002 | t0001 | g0003 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01258 | hp1 | a0003 | c0003 | t0001 | g0016 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01258 | hp2 | a0002 | c0002 | t0001 | g0003 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01346 | hp1 | a0002 | c0002 | t0001 | g0051 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01346 | hp2 | a0003 | c0003 | t0001 | g0270 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0212 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01433 | hp2 | a0002 | c0002 | t0001 | g0091 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0047 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0175 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01515 | hp2 | a0002 | c0002 | t0001 | g0064 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01516 | hp1 | a0002 | c0002 | t0001 | g0063 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0159 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0226 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01891 | hp1 | a0004 | c0004 | t0001 | g0011 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01891 | hp2 | a0002 | c0005 | t0001 | g0261 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01928 | hp1 | a0002 | c0002 | t0001 | g0278 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01934 | hp2 | a0002 | c0002 | t0001 | g0055 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01943 | hp1 | a0002 | c0002 | t0001 | g0219 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0161 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0079 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01981 | hp1 | a0002 | c0002 | t0001 | g0057 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0062 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01993 | hp2 | a0008 | c0014 | t0004 | g0209 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02015 | hp2 | a0003 | c0003 | t0001 | g0078 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0189 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0035 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02056 | hp2 | a0002 | c0002 | t0001 | g0061 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02074 | hp1 | a0003 | c0003 | t0001 | g0266 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0233 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02080 | hp1 | a0004 | c0007 | t0001 | g0302 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02135 | hp1 | a0004 | c0007 | t0001 | g0301 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02135 | hp2 | a0002 | c0002 | t0001 | g0025 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02145 | hp1 | a0004 | c0004 | t0001 | g0033 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02148 | hp2 | a0002 | c0002 | t0001 | g0048 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | CDX | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02165 | hp2 | a0002 | c0010 | t0001 | g0305 | EAS | CDX | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02257 | hp1 | a0004 | c0004 | t0001 | g0032 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0166 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02258 | hp2 | a0004 | c0004 | t0001 | g0103 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02280 | hp1 | a0001 | c0001 | t0005 | g0221 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0204 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0155 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02451 | hp2 | a0004 | c0004 | t0001 | g0086 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02523 | hp1 | a0002 | c0010 | t0001 | g0306 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0150 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0218 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0229 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02602 | hp2 | a0002 | c0002 | t0001 | g0054 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0109 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02615 | hp2 | a0003 | c0003 | t0001 | g0293 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0237 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02622 | hp2 | a0002 | c0005 | t0001 | g0250 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02630 | hp1 | a0002 | c0002 | t0003 | g0244 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0216 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02683 | hp1 | a0002 | c0002 | t0001 | g0036 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02698 | hp1 | a0002 | c0002 | t0001 | g0100 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02717 | hp1 | a0003 | c0003 | t0001 | g0267 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02717 | hp2 | a0002 | c0005 | t0001 | g0259 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02723 | hp1 | a0004 | c0004 | t0001 | g0094 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02723 | hp2 | a0003 | c0003 | t0001 | g0264 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0236 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0235 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02738 | hp1 | a0009 | c0012 | t0001 | g0160 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0088 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0213 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02809 | hp2 | a0004 | c0004 | t0001 | g0087 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02886 | hp1 | a0002 | c0002 | t0003 | g0241 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02895 | hp1 | a0002 | c0002 | t0003 | g0243 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02895 | hp2 | a0003 | c0003 | t0001 | g0015 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0225 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02897 | hp1 | a0003 | c0003 | t0001 | g0015 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02922 | hp1 | a0002 | c0005 | t0001 | g0252 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0197 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02965 | hp1 | a0002 | c0005 | t0001 | g0263 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0215 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02976 | hp2 | a0003 | c0003 | t0001 | g0288 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0223 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0026 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03041 | hp1 | a0003 | c0006 | t0001 | g0130 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0199 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0205 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03098 | hp2 | a0003 | c0006 | t0001 | g0210 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0198 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0289 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0203 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03139 | hp2 | a0003 | c0006 | t0001 | g0300 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03195 | hp1 | a0010 | c0013 | t0001 | g0108 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0206 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0167 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03225 | hp1 | a0004 | c0004 | t0001 | g0224 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03239 | hp1 | a0002 | c0005 | t0001 | g0257 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03239 | hp2 | a0003 | c0003 | t0001 | g0271 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03453 | hp1 | a0003 | c0006 | t0001 | g0249 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03453 | hp2 | a0004 | c0004 | t0001 | g0220 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03486 | hp1 | a0002 | c0005 | t0001 | g0251 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0105 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03490 | hp1 | a0003 | c0003 | t0001 | g0283 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03490 | hp2 | a0002 | c0002 | t0001 | g0006 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03491 | hp1 | a0003 | c0003 | t0001 | g0013 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03491 | hp2 | a0004 | c0004 | t0001 | g0080 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03492 | hp1 | a0003 | c0003 | t0001 | g0013 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0006 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03516 | hp1 | a0002 | c0005 | t0001 | g0258 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03516 | hp2 | a0002 | c0005 | t0001 | g0260 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03540 | hp1 | a0003 | c0003 | t0001 | g0294 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0164 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03654 | hp1 | a0003 | c0003 | t0001 | g0012 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03654 | hp2 | a0002 | c0002 | t0001 | g0050 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0058 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0201 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03688 | hp2 | a0004 | c0004 | t0001 | g0093 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03704 | hp1 | a0003 | c0003 | t0001 | g0277 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03704 | hp2 | a0002 | c0005 | t0001 | g0303 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0231 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03710 | hp2 | a0004 | c0004 | t0001 | g0005 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03831 | hp1 | a0003 | c0003 | t0001 | g0284 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0038 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0117 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03834 | hp2 | a0011 | c0015 | t0001 | g0098 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03927 | hp1 | a0004 | c0004 | t0001 | g0081 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0135 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03942 | hp1 | a0003 | c0003 | t0001 | g0281 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03942 | hp2 | a0004 | c0004 | t0001 | g0005 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04115 | hp1 | a0004 | c0004 | t0001 | g0039 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04115 | hp2 | a0003 | c0003 | t0001 | g0280 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0097 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04184 | hp2 | a0003 | c0003 | t0001 | g0286 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04199 | hp1 | a0002 | c0005 | t0001 | g0256 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04199 | hp2 | a0003 | c0003 | t0001 | g0272 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0119 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0074 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04228 | hp1 | a0004 | c0007 | t0001 | g0304 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04228 | hp2 | a0003 | c0003 | t0001 | g0012 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18522 | hp2 | a0002 | c0002 | t0003 | g0242 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18612 | hp2 | a0003 | c0003 | t0001 | g0274 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18747 | hp2 | a0003 | c0003 | t0001 | g0276 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18906 | hp1 | a0003 | c0003 | t0001 | g0269 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18906 | hp2 | a0003 | c0003 | t0001 | g0287 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18946 | hp1 | a0003 | c0003 | t0001 | g0022 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18947 | hp1 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0071 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18954 | hp1 | a0002 | c0002 | t0001 | g0044 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18962 | hp2 | a0002 | c0002 | t0001 | g0073 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18963 | hp1 | a0002 | c0002 | t0001 | g0045 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18972 | hp1 | a0003 | c0003 | t0001 | g0275 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18977 | hp1 | a0002 | c0002 | t0001 | g0069 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18978 | hp1 | a0003 | c0003 | t0001 | g0019 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18980 | hp1 | a0003 | c0003 | t0001 | g0296 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18980 | hp2 | a0002 | c0002 | t0001 | g0075 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18981 | hp2 | a0002 | c0002 | t0001 | g0060 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18988 | hp2 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18991 | hp2 | a0002 | c0002 | t0001 | g0043 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18997 | hp1 | a0002 | c0002 | t0001 | g0037 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19002 | hp1 | a0002 | c0002 | t0001 | g0041 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19011 | hp2 | a0002 | c0002 | t0001 | g0052 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19012 | hp1 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0239 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0227 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19043 | hp2 | a0004 | c0004 | t0001 | g0082 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19056 | hp1 | a0003 | c0003 | t0001 | g0279 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19057 | hp2 | a0002 | c0002 | t0001 | g0068 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19058 | hp1 | a0002 | c0002 | t0001 | g0040 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19060 | hp1 | a0002 | c0002 | t0001 | g0102 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19060 | hp2 | a0003 | c0003 | t0001 | g0273 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0101 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19064 | hp1 | a0002 | c0002 | t0001 | g0095 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19064 | hp2 | a0003 | c0003 | t0001 | g0298 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19065 | hp1 | a0002 | c0002 | t0001 | g0090 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19072 | hp2 | a0003 | c0003 | t0001 | g0299 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19077 | hp1 | a0003 | c0003 | t0001 | g0019 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19079 | hp2 | a0003 | c0003 | t0001 | g0297 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19083 | hp1 | a0003 | c0003 | t0001 | g0021 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19084 | hp1 | a0002 | c0002 | t0001 | g0096 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19084 | hp2 | a0003 | c0003 | t0001 | g0023 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19087 | hp1 | a0006 | c0008 | t0001 | g0185 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19089 | hp1 | a0003 | c0003 | t0001 | g0024 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19089 | hp2 | a0006 | c0008 | t0001 | g0207 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19240 | hp1 | a0003 | c0003 | t0001 | g0265 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19240 | hp2 | a0002 | c0005 | t0001 | g0262 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20129 | hp1 | a0004 | c0004 | t0001 | g0067 | AFR | ASW | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20129 | hp2 | a0002 | c0002 | t0003 | g0020 | AFR | ASW | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20752 | hp1 | a0003 | c0003 | t0001 | g0285 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0149 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20805 | hp1 | a0002 | c0002 | t0001 | g0056 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20805 | hp2 | a0003 | c0003 | t0001 | g0018 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20905 | hp1 | a0002 | c0005 | t0001 | g0307 | SAS | GIH | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20905 | hp2 | a0004 | c0004 | t0001 | g0066 | SAS | GIH | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0133 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02486 | hp1 | a0004 | c0004 | t0001 | g0228 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02486 | hp2 | a0003 | c0003 | t0001 | g0018 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02559 | hp1 | a0004 | c0004 | t0001 | g0238 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02559 | hp2 | a0004 | c0004 | t0001 | g0034 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03471 | hp2 | a0004 | c0004 | t0001 | g0222 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG06807 | hp1 | a0004 | c0004 | t0001 | g0011 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG06807 | hp2 | a0002 | c0005 | t0001 | g0253 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0104 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA21309 | hp1 | a0002 | c0005 | t0001 | g0254 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA21309 | hp2 | a0002 | c0002 | t0001 | g0070 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0115 | REF | REF | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| homoSapiens | grch38p0 | a0003 | c0003 | t0001 | g0245 | REF | REF | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50096335 | T | C | 1 | a0007 | 1 | HG01109.hp2 | missense_variant | MODERATE | c.250T>C | p.Tyr84His | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 453/1607 | 250/1317 | 84/438 | chr7 | 50096335 | |||
| chr7:50096380 | G | T | 1 | a0011 | 1 | HG03834.hp2 | missense_variant | MODERATE | c.295G>T | p.Asp99Tyr | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 498/1607 | 295/1317 | 99/438 | chr7 | 50096380 | |||
| chr7:50096560 | C | A | 1 | a0006 | 2 | NA19087.hp1 NA19089.hp2 |
missense_variant | MODERATE | c.475C>A | p.Leu159Ile | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 678/1607 | 475/1317 | 159/438 | chr7 | 50096560 | |||
| chr7:50104347 | A | C | 1 | a0005 | 2 | HG00733.hp1 HG01255.hp1 |
missense_variant | MODERATE | c.587A>C | p.Gln196Pro | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 790/1607 | 587/1317 | 196/438 | chr7 | 50104347 | |||
| chr7:50104364 | C | T | 1 | a0010 | 1 | HG03195.hp1 | missense_variant | MODERATE | c.604C>T | p.Arg202Cys | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 807/1607 | 604/1317 | 202/438 | chr7 | 50104364 | |||
| chr7:50134181 | A | G | 7 | a0001 a0004 a0005 others(4): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
missense_variant | MODERATE | c.802A>G | p.Thr268Ala | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/9 | 1005/1607 | 802/1317 | 268/438 | chr7 | 50134181 | |||
| chr7:50136164 | T | G | 1 | a0009 | 1 | HG02738.hp1 | missense_variant&splice_region_variant | MODERATE | c.934T>G | p.Phe312Val | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/9 | 1137/1607 | 934/1317 | 312/438 | chr7 | 50136164 | |||
| chr7:50141302 | T | A | 1 | a0008 | 1 | HG01993.hp2 | missense_variant | MODERATE | c.999T>A | p.Asn333Lys | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1202/1607 | 999/1317 | 333/438 | chr7 | 50141302 | |||
| chr7:50141376 | C | T | 4 | a0002 a0004 a0008 others(1): Show |
117 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show |
missense_variant | MODERATE | c.1073C>T | p.Thr358Ile | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1276/1607 | 1073/1317 | 358/438 | chr7 | 50141376 | |||
| chr7:50159256 | G | A | 1 | a0001 | 1 | HG02280.hp1 | splice_region_variant | LOW | c.*87G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 9/9 | chr7 | 50159256 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50104342 | C | T | 5 | a0002c0005 a0002c0010 a0003c0006 others(2): Show |
26 | HG00280.hp1 HG01891.hp2 HG01993.hp2 others(23): Show |
synonymous_variant | LOW | c.582C>T | p.Pro194Pro | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 785/1607 | 582/1317 | 194/438 | chr7 | 50104342 | |||
| chr7:50141374 | T | C | 1 | a0002c0010 | 2 | HG02165.hp2 HG02523.hp1 |
synonymous_variant | LOW | c.1071T>C | p.Tyr357Tyr | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1274/1607 | 1071/1317 | 357/438 | chr7 | 50141374 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50095961 | G | A | 1 | a0002c0002t0003 | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-125G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 125 | chr7 | 50095961 | ||||||
| chr7:50096036 | G | A | 2 | a0001c0001t0002 a0005c0009t0002 |
11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-50G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 50 | chr7 | 50096036 | ||||||
| chr7:50159176 | C | A | 2 | a0001c0001t0004 a0008c0014t0004 |
2 | HG01993.hp2 HG03486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 9/9 | 7 | chr7 | 50159176 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50096850 | C | A | 1 | a0002c0002t0003g0020 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.553+212C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50096850 | |||||||
| chr7:50097061 | G | A | 5 | a0003c0003t0001g0001 a0003c0003t0001g0021 a0003c0003t0001g0022 others(2): Show |
7 | NA18946.hp1 NA18947.hp1 NA18988.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+423G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097061 | |||||||
| chr7:50097067 | T | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.553+429T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097067 | |||||||
| chr7:50097072 | G | A | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+434G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097072 | |||||||
| chr7:50097073 | G | A | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+435G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097073 | |||||||
| chr7:50097298 | C | A | 1 | a0002c0002t0003g0241 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.553+660C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097298 | |||||||
| chr7:50097311 | A | G | 302 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(299): Show |
323 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(320): Show |
intron_variant | MODIFIER | c.553+673A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097311 | |||||||
| chr7:50097347 | T | G | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.553+709T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097347 | |||||||
| chr7:50097409 | G | A | 1 | a0002c0002t0001g0025 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.553+771G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097409 | |||||||
| chr7:50097440 | A | G | 7 | a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 others(4): Show |
7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+802A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097440 | |||||||
| chr7:50097605 | T | C | 2 | a0003c0003t0001g0264 a0003c0003t0001g0265 |
2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.553+967T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097605 | |||||||
| chr7:50097683 | T | TA | 7 | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(4): Show |
7 | HG02074.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.553+1060dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | ||||||
| chr7:50097683 | T | TAA | 130 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(127): Show |
137 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.553+1059_553+1060d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | ||||||
| chr7:50097683 | T | TAAA | 85 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(82): Show |
89 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(86): Show |
intron_variant | MODIFIER | c.553+1058_553+1060d others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | ||||||
| chr7:50097683 | TA | T | 25 | a0002c0002t0003g0020 a0002c0002t0003g0244 a0002c0005t0001g0250 others(22): Show |
25 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(22): Show |
intron_variant | MODIFIER | c.553+1060delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | ||||||
| chr7:50097866 | G | A | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+1228G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097866 | |||||||
| chr7:50098072 | G | T | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.553+1434G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098072 | |||||||
| chr7:50098141 | T | TC | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.553+1503_553+1504i others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098141 | |||||||
| chr7:50098278 | C | T | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.553+1640C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098278 | |||||||
| chr7:50098279 | A | G | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.553+1641A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098279 | |||||||
| chr7:50098314 | C | A | 5 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+1676C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098314 | |||||||
| chr7:50098560 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.553+1922G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098560 | |||||||
| chr7:50098781 | C | T | 7 | a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 others(4): Show |
7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+2143C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098781 | |||||||
| chr7:50098838 | T | TGG | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.553+2205_553+2206d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50098838 | ||||||
| chr7:50099190 | T | C | 1 | a0003c0003t0001g0266 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.553+2552T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099190 | |||||||
| chr7:50099203 | T | C | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.553+2565T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099203 | |||||||
| chr7:50099239 | C | T | 15 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(12): Show |
15 | HG00280.hp1 HG01891.hp2 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.553+2601C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099239 | |||||||
| chr7:50099779 | C | T | 2 | a0001c0001t0001g0229 a0001c0001t0001g0230 |
2 | HG02056.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.553+3141C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099779 | |||||||
| chr7:50099898 | A | C | 5 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(2): Show |
5 | HG01884.hp1 HG02258.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+3260A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099898 | |||||||
| chr7:50099960 | G | A | 15 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(12): Show |
15 | HG00280.hp1 HG01891.hp2 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.553+3322G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099960 | |||||||
| chr7:50100341 | C | T | 80 | a0001c0001t0005g0221 a0002c0002t0001g0003 a0002c0002t0001g0004 others(77): Show |
85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.553+3703C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100341 | |||||||
| chr7:50100640 | G | A | 1 | a0003c0006t0001g0300 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.554-3674G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100640 | |||||||
| chr7:50100808 | T | C | 12 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(9): Show |
12 | HG01884.hp1 HG01884.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.554-3506T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100808 | |||||||
| chr7:50100811 | A | C | 7 | a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 others(4): Show |
7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-3503A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100811 | |||||||
| chr7:50100812 | A | AAAATAAA others(1): Show |
20 | a0001c0001t0001g0035 a0001c0001t0001g0214 a0001c0001t0001g0215 others(17): Show |
21 | HG00423.hp1 HG00639.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.554-3476_554-3469d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100812 | A | AAAATAAA others(5): Show |
30 | a0001c0001t0001g0031 a0001c0001t0001g0104 a0001c0001t0001g0113 others(27): Show |
30 | HG01433.hp1 HG01993.hp2 HG02145.hp1 others(27): Show |
intron_variant | MODIFIER | c.554-3480_554-3469d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100812 | A | AAAATAAA others(9): Show |
94 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
99 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.554-3484_554-3469d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100812 | A | AAAATAAA others(13): Show |
81 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0107 others(78): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.554-3488_554-3469d others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100812 | A | AAAATAAA others(17): Show |
8 | a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 others(5): Show |
8 | HG00735.hp1 HG01981.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.554-3492_554-3469d others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100812 | AAAAT | A | 59 | a0001c0001t0001g0289 a0002c0002t0001g0278 a0002c0005t0001g0303 others(56): Show |
69 | HG00140.hp1 HG00642.hp1 HG00733.hp2 others(66): Show |
intron_variant | MODIFIER | c.554-3472_554-3469d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | ||||||
| chr7:50100820 | T | TAAATAAA others(6): Show |
8 | a0001c0001t0001g0026 a0001c0001t0001g0114 a0001c0001t0001g0116 others(5): Show |
8 | HG00140.hp2 HG00735.hp2 HG01496.hp1 others(5): Show |
intron_variant | MODIFIER | c.554-3491_554-3479d others(15): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100820 | ||||||
| chr7:50100828 | T | TAAATA | 4 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02015.hp1 NA18944.hp1 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.554-3483_554-3479d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100828 | ||||||
| chr7:50100870 | C | A | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.554-3444C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100870 | |||||||
| chr7:50101031 | C | T | 2 | a0001c0001t0001g0163 a0001c0001t0001g0200 |
2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.554-3283C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101031 | |||||||
| chr7:50101097 | C | T | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.554-3217C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101097 | |||||||
| chr7:50101149 | T | C | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-3165T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101149 | |||||||
| chr7:50101157 | T | C | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-3157T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101157 | |||||||
| chr7:50101160 | G | A | 1 | a0003c0006t0001g0130 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.554-3154G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101160 | |||||||
| chr7:50101208 | A | G | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-3106A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101208 | |||||||
| chr7:50101373 | C | T | 1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.554-2941C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101373 | |||||||
| chr7:50101419 | C | G | 1 | a0002c0005t0001g0260 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.554-2895C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101419 | |||||||
| chr7:50101472 | T | C | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-2842T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101472 | |||||||
| chr7:50101716 | A | G | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.554-2598A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101716 | |||||||
| chr7:50101925 | C | A | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.554-2389C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101925 | |||||||
| chr7:50101939 | T | G | 1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.554-2375T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101939 | |||||||
| chr7:50102478 | C | G | 5 | a0002c0002t0001g0004 a0002c0002t0001g0063 a0002c0002t0001g0064 others(2): Show |
6 | HG00099.hp1 HG00642.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.554-1836C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102478 | |||||||
| chr7:50102558 | C | T | 1 | a0004c0004t0001g0238 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.554-1756C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102558 | |||||||
| chr7:50102842 | C | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.554-1472C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102842 | |||||||
| chr7:50102848 | T | C | 3 | a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 |
3 | HG00280.hp1 HG03239.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.554-1466T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102848 | |||||||
| chr7:50102938 | C | T | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.554-1376C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102938 | |||||||
| chr7:50102958 | A | C | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.554-1356A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102958 | |||||||
| chr7:50103052 | T | TTA | 10 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(7): Show |
10 | HG00280.hp1 HG02630.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.554-1249_554-1248d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | ||||||
| chr7:50103052 | T | TTATA | 206 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(203): Show |
217 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.554-1251_554-1248d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | ||||||
| chr7:50103052 | T | TTTTA | 15 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0199 others(12): Show |
15 | HG01433.hp1 HG01993.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.554-1261_554-1260i others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | ||||||
| chr7:50103066 | A | AAT | 11 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(8): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.554-1240_554-1239d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103066 | ||||||
| chr7:50103066 | A | AT | 7 | a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 others(4): Show |
7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-1248_554-1247i others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103066 | |||||||
| chr7:50103068 | T | A | 7 | a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 others(4): Show |
7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-1246T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103068 | |||||||
| chr7:50103240 | A | G | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.554-1074A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103240 | |||||||
| chr7:50103357 | T | C | 11 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(8): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.554-957T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103357 | |||||||
| chr7:50103447 | T | C | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-867T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103447 | |||||||
| chr7:50103548 | G | A | 1 | a0001c0001t0001g0231 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.554-766G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103548 | |||||||
| chr7:50103651 | C | G | 1 | a0002c0002t0001g0091 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.554-663C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103651 | |||||||
| chr7:50103988 | T | A | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.554-326T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103988 | |||||||
| chr7:50104019 | T | C | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-295T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104019 | |||||||
| chr7:50104080 | C | T | 2 | a0001c0001t0001g0239 a0004c0004t0001g0238 |
2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.554-234C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104080 | |||||||
| chr7:50104120 | G | A | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.554-194G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104120 | |||||||
| chr7:50104127 | G | A | 19 | a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0001g0165 others(16): Show |
20 | HG00280.hp1 HG01891.hp2 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.554-187G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104127 | |||||||
| chr7:50104427 | G | A | 4 | a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0001g0133 others(1): Show |
4 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+16G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104427 | |||||||
| chr7:50104435 | T | A | 1 | a0002c0002t0001g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.651+24T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104435 | |||||||
| chr7:50104463 | T | TTA | 235 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(232): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show |
intron_variant | MODIFIER | c.651+63_651+64dupTA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50104463 | ||||||
| chr7:50104531 | A | G | 11 | a0003c0003t0001g0001 a0003c0003t0001g0019 a0003c0003t0001g0021 others(8): Show |
14 | HG02074.hp1 NA18946.hp1 NA18947.hp1 others(11): Show |
intron_variant | MODIFIER | c.651+120A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104531 | |||||||
| chr7:50104598 | A | G | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.651+187A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104598 | |||||||
| chr7:50104815 | C | T | 1 | a0001c0001t0001g0124 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.651+404C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104815 | |||||||
| chr7:50104853 | T | C | 1 | a0001c0001t0001g0239 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.651+442T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104853 | |||||||
| chr7:50104885 | C | A | 1 | a0001c0001t0001g0167 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.651+474C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104885 | |||||||
| chr7:50104930 | A | G | 11 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(8): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+519A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104930 | |||||||
| chr7:50104933 | C | T | 1 | a0002c0005t0001g0307 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.651+522C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104933 | |||||||
| chr7:50104989 | A | G | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+578A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104989 | |||||||
| chr7:50105175 | T | C | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+764T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105175 | |||||||
| chr7:50105231 | T | C | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+820T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105231 | |||||||
| chr7:50105332 | C | G | 1 | a0001c0001t0001g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.651+921C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105332 | |||||||
| chr7:50105404 | C | A | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.651+993C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105404 | |||||||
| chr7:50105411 | A | G | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.651+1000A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105411 | |||||||
| chr7:50105427 | T | C | 222 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(219): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+1016T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105427 | |||||||
| chr7:50105586 | C | T | 1 | a0011c0015t0001g0098 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.651+1175C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105586 | |||||||
| chr7:50105675 | T | G | 230 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(227): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.651+1264T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105675 | |||||||
| chr7:50105904 | A | C | 23 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(20): Show |
23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+1493A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105904 | |||||||
| chr7:50106062 | A | G | 23 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(20): Show |
23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+1651A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106062 | |||||||
| chr7:50106297 | T | C | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+1886T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106297 | |||||||
| chr7:50106597 | C | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+2186C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106597 | |||||||
| chr7:50106717 | A | G | 1 | a0001c0001t0001g0030 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.651+2306A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106717 | |||||||
| chr7:50106793 | C | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+2382C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106793 | |||||||
| chr7:50106970 | C | G | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+2559C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106970 | |||||||
| chr7:50107243 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.651+2832C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107243 | |||||||
| chr7:50107269 | T | C | 4 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+2858T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107269 | |||||||
| chr7:50107288 | G | A | 1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.651+2877G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107288 | |||||||
| chr7:50107305 | G | A | 4 | a0001c0001t0001g0035 a0004c0004t0001g0032 a0004c0004t0001g0033 others(1): Show |
4 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+2894G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107305 | |||||||
| chr7:50107362 | C | CA | 17 | a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 others(14): Show |
17 | HG00280.hp1 HG01109.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.651+2974dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107362 | ||||||
| chr7:50107362 | C | CAA | 7 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(4): Show |
7 | HG02622.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.651+2973_651+2974d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107362 | ||||||
| chr7:50107380 | A | G | 1 | a0002c0002t0001g0090 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.651+2969A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107380 | |||||||
| chr7:50107382 | AAAAG | A | 20 | a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0001g0131 others(17): Show |
20 | HG00597.hp2 HG01081.hp1 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.651+2975_651+2978d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107382 | ||||||
| chr7:50107392 | AAAAG | A | 199 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
intron_variant | MODIFIER | c.651+2985_651+2988d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107392 | ||||||
| chr7:50107401 | A | G | 199 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
intron_variant | MODIFIER | c.651+2990A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107401 | |||||||
| chr7:50107402 | G | A | 199 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(196): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
intron_variant | MODIFIER | c.651+2991G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107402 | |||||||
| chr7:50107402 | G | GA | 46 | a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0001g0113 others(43): Show |
46 | HG00280.hp1 HG00597.hp2 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.651+3003dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107402 | ||||||
| chr7:50107628 | A | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3217A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107628 | |||||||
| chr7:50107663 | C | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3252C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107663 | |||||||
| chr7:50107694 | G | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+3283G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107694 | |||||||
| chr7:50107699 | G | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3288G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107699 | |||||||
| chr7:50107717 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.651+3306G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107717 | |||||||
| chr7:50107734 | C | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3323C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107734 | |||||||
| chr7:50107753 | A | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3342A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107753 | |||||||
| chr7:50107798 | C | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3387C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107798 | |||||||
| chr7:50108003 | G | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3592G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108003 | |||||||
| chr7:50108168 | A | G | 23 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(20): Show |
23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+3757A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108168 | |||||||
| chr7:50108282 | G | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3871G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108282 | |||||||
| chr7:50108339 | T | C | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3928T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108339 | |||||||
| chr7:50108402 | G | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+3991G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108402 | |||||||
| chr7:50108447 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+4036C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108447 | |||||||
| chr7:50108454 | C | T | 8 | a0003c0003t0001g0018 a0003c0003t0001g0269 a0003c0003t0001g0270 others(5): Show |
9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.651+4043C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108454 | |||||||
| chr7:50108518 | C | G | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+4107C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108518 | |||||||
| chr7:50108635 | ATGATGAC others(6): Show |
A | 1 | a0001c0001t0001g0193 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.651+4230_651+4242d others(15): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50108635 | ||||||
| chr7:50108646 | A | G | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+4235A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108646 | |||||||
| chr7:50108747 | G | T | 1 | a0001c0001t0001g0129 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.651+4336G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108747 | |||||||
| chr7:50108779 | A | C | 280 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(277): Show |
297 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(294): Show |
intron_variant | MODIFIER | c.651+4368A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108779 | |||||||
| chr7:50108867 | T | A | 5 | a0004c0004t0001g0005 a0004c0004t0001g0039 a0004c0004t0001g0066 others(2): Show |
6 | HG03688.hp2 HG03710.hp2 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.651+4456T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108867 | |||||||
| chr7:50108883 | C | T | 1 | a0002c0002t0003g0020 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.651+4472C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108883 | |||||||
| chr7:50109059 | T | C | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+4648T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109059 | |||||||
| chr7:50109063 | T | C | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+4652T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109063 | |||||||
| chr7:50109128 | T | C | 1 | a0002c0002t0001g0090 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.651+4717T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109128 | |||||||
| chr7:50109141 | T | C | 1 | a0001c0001t0001g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.651+4730T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109141 | |||||||
| chr7:50109176 | A | C | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+4765A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109176 | |||||||
| chr7:50109177 | A | G | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+4766A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109177 | |||||||
| chr7:50109242 | A | G | 3 | a0001c0001t0001g0010 a0001c0001t0001g0192 a0006c0008t0001g0207 |
4 | NA19011.hp1 NA19012.hp2 NA19083.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+4831A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109242 | |||||||
| chr7:50109362 | AATTT | A | 28 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(25): Show |
28 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(25): Show |
intron_variant | MODIFIER | c.651+4981_651+4984d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50109362 | ||||||
| chr7:50109362 | AATTTATT others(1): Show |
A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+4977_651+4984d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50109362 | ||||||
| chr7:50109370 | T | A | 10 | a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 others(7): Show |
10 | HG00280.hp1 HG02080.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.651+4959T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109370 | |||||||
| chr7:50109374 | T | A | 232 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(229): Show |
243 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(240): Show |
intron_variant | MODIFIER | c.651+4963T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109374 | |||||||
| chr7:50109378 | T | A | 222 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(219): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+4967T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109378 | |||||||
| chr7:50109382 | T | A | 11 | a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 others(8): Show |
12 | HG01891.hp1 HG01993.hp2 HG03041.hp1 others(9): Show |
intron_variant | MODIFIER | c.651+4971T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109382 | |||||||
| chr7:50109390 | T | C | 4 | a0004c0004t0001g0067 a0004c0004t0001g0086 a0004c0004t0001g0087 others(1): Show |
4 | HG02451.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+4979T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109390 | |||||||
| chr7:50109429 | G | A | 1 | a0001c0001t0001g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.651+5018G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109429 | |||||||
| chr7:50109449 | C | A | 1 | a0004c0004t0001g0220 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.651+5038C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109449 | |||||||
| chr7:50109546 | T | G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+5135T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109546 | |||||||
| chr7:50109594 | C | T | 2 | a0001c0001t0001g0107 a0001c0001t0001g0109 |
2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.651+5183C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109594 | |||||||
| chr7:50109616 | C | A | 3 | a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0069 |
3 | NA18963.hp1 NA18977.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.651+5205C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109616 | |||||||
| chr7:50110052 | G | A | 2 | a0001c0001t0001g0026 a0001c0001t0001g0116 |
2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.651+5641G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110052 | |||||||
| chr7:50110169 | T | A | 4 | a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 others(1): Show |
4 | HG00280.hp1 HG03239.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+5758T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110169 | |||||||
| chr7:50110544 | A | G | 1 | a0003c0003t0001g0290 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.651+6133A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110544 | |||||||
| chr7:50110642 | ATATAT | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+6237_651+6241d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110642 | ||||||
| chr7:50110652 | T | C | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+6241T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110652 | |||||||
| chr7:50110668 | C | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+6257C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110668 | |||||||
| chr7:50110691 | T | C | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.651+6280T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110691 | |||||||
| chr7:50110706 | A | T | 3 | a0002c0002t0001g0059 a0002c0002t0001g0084 a0002c0002t0001g0085 |
3 | HG00323.hp1 HG01106.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.651+6295A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110706 | |||||||
| chr7:50110732 | ATAT | A | 222 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(219): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+6325_651+6327d others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110732 | ||||||
| chr7:50110747 | A | G | 11 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(8): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+6336A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110747 | |||||||
| chr7:50110799 | T | C | 2 | a0003c0003t0001g0280 a0003c0003t0001g0281 |
2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.651+6388T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110799 | |||||||
| chr7:50110812 | A | ATATAATA others(25): Show |
41 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(38): Show |
41 | HG00280.hp1 HG01884.hp1 HG01884.hp2 others(38): Show |
intron_variant | MODIFIER | c.651+6415_651+6446d others(34): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110812 | ||||||
| chr7:50110812 | A | ATATAATA others(23): Show |
1 | a0003c0006t0001g0300 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.651+6417_651+6418i others(32): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110812 | ||||||
| chr7:50110869 | C | T | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+6458C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110869 | |||||||
| chr7:50111025 | GTATAT | G | 4 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show |
4 | HG01934.hp1 NA18954.hp2 NA19058.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+6620_651+6624d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50111025 | ||||||
| chr7:50111171 | G | A | 2 | a0003c0003t0001g0291 a0003c0003t0001g0292 |
2 | HG01167.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.651+6760G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111171 | |||||||
| chr7:50111886 | C | T | 1 | a0002c0002t0001g0088 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.651+7475C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111886 | |||||||
| chr7:50111887 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.651+7476G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111887 | |||||||
| chr7:50111906 | G | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+7495G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111906 | |||||||
| chr7:50111955 | C | T | 2 | a0001c0001t0001g0163 a0001c0001t0001g0200 |
2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.651+7544C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111955 | |||||||
| chr7:50111981 | A | G | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.651+7570A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111981 | |||||||
| chr7:50112118 | G | T | 1 | a0002c0002t0001g0223 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.651+7707G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112118 | |||||||
| chr7:50112374 | A | G | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+7963A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112374 | |||||||
| chr7:50112420 | A | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8009A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112420 | |||||||
| chr7:50112433 | C | T | 2 | a0002c0005t0001g0255 a0002c0005t0001g0257 |
2 | HG00280.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.651+8022C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112433 | |||||||
| chr7:50112510 | C | T | 23 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(20): Show |
23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+8099C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112510 | |||||||
| chr7:50112522 | TA | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8118delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50112522 | ||||||
| chr7:50112571 | C | T | 1 | a0002c0005t0001g0256 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.651+8160C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112571 | |||||||
| chr7:50112878 | G | A | 222 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(219): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+8467G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112878 | |||||||
| chr7:50112914 | A | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8503A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112914 | |||||||
| chr7:50112947 | AT | A | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8537delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112947 | |||||||
| chr7:50112952 | A | T | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+8541A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112952 | |||||||
| chr7:50112959 | A | G | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8548A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112959 | |||||||
| chr7:50112987 | C | T | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112987 | |||||||
| chr7:50113026 | A | G | 2 | a0003c0003t0001g0264 a0003c0003t0001g0265 |
2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.651+8615A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113026 | |||||||
| chr7:50113079 | G | A | 222 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(219): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+8668G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113079 | |||||||
| chr7:50113158 | C | T | 47 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0026 others(44): Show |
49 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(46): Show |
intron_variant | MODIFIER | c.651+8747C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113158 | |||||||
| chr7:50113349 | C | CAT | 225 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(222): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+8939_651+8940i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50113349 | ||||||
| chr7:50113635 | C | T | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+9224C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113635 | |||||||
| chr7:50113655 | C | T | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG01884.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.651+9244C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113655 | |||||||
| chr7:50113685 | C | T | 2 | a0001c0001t0001g0026 a0001c0001t0001g0116 |
2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.651+9274C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113685 | |||||||
| chr7:50113771 | C | A | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+9360C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113771 | |||||||
| chr7:50113852 | A | T | 1 | a0002c0002t0001g0083 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.651+9441A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113852 | |||||||
| chr7:50113983 | C | G | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+9572C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113983 | |||||||
| chr7:50114461 | G | A | 14 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0127 others(11): Show |
15 | HG00639.hp2 HG00741.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.651+10050G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114461 | |||||||
| chr7:50114564 | A | C | 1 | a0004c0004t0001g0238 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.651+10153A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114564 | |||||||
| chr7:50114572 | A | C | 1 | a0002c0002t0001g0004 | 2 | HG00642.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.651+10161A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114572 | |||||||
| chr7:50114664 | CT | C | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+10254delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114664 | |||||||
| chr7:50114665 | T | C | 221 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(218): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
intron_variant | MODIFIER | c.651+10254T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114665 | |||||||
| chr7:50114722 | G | A | 11 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(8): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+10311G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114722 | |||||||
| chr7:50114748 | A | T | 2 | a0001c0001t0001g0121 a0001c0001t0001g0188 |
2 | NA18747.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.651+10337A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114748 | |||||||
| chr7:50114751 | C | T | 24 | a0002c0002t0001g0117 a0002c0005t0001g0250 a0002c0005t0001g0251 others(21): Show |
24 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(21): Show |
intron_variant | MODIFIER | c.651+10340C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114751 | |||||||
| chr7:50114788 | G | C | 6 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0004g0105 others(3): Show |
6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.651+10377G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114788 | |||||||
| chr7:50114942 | G | A | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+10531G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114942 | |||||||
| chr7:50114971 | A | C | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.651+10560A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114971 | |||||||
| chr7:50114979 | G | A | 2 | a0001c0001t0001g0239 a0004c0004t0001g0238 |
2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.651+10568G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114979 | |||||||
| chr7:50115030 | CA | C | 98 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0158 others(95): Show |
103 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.651+10636delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50115030 | ||||||
| chr7:50115282 | A | G | 80 | a0001c0001t0005g0221 a0002c0002t0001g0003 a0002c0002t0001g0004 others(77): Show |
85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.651+10871A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115282 | |||||||
| chr7:50115568 | G | T | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+11157G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115568 | |||||||
| chr7:50115632 | T | G | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+11221T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115632 | |||||||
| chr7:50115689 | G | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+11278G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115689 | |||||||
| chr7:50115787 | G | C | 8 | a0003c0003t0001g0018 a0003c0003t0001g0269 a0003c0003t0001g0270 others(5): Show |
9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.651+11376G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115787 | |||||||
| chr7:50115855 | G | A | 221 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(218): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(229): Show |
intron_variant | MODIFIER | c.651+11444G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115855 | |||||||
| chr7:50115887 | T | A | 1 | a0001c0001t0001g0167 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.651+11476T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115887 | |||||||
| chr7:50115898 | C | T | 80 | a0001c0001t0005g0221 a0002c0002t0001g0003 a0002c0002t0001g0004 others(77): Show |
85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.651+11487C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115898 | |||||||
| chr7:50115938 | G | A | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.651+11527G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115938 | |||||||
| chr7:50116093 | A | G | 224 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(221): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show |
intron_variant | MODIFIER | c.651+11682A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116093 | |||||||
| chr7:50116259 | G | C | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+11848G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116259 | |||||||
| chr7:50116348 | T | C | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.651+11937T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116348 | |||||||
| chr7:50116621 | T | A | 6 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0004g0105 others(3): Show |
6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.651+12210T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116621 | |||||||
| chr7:50116729 | T | A | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+12318T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116729 | |||||||
| chr7:50116734 | A | G | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+12323A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116734 | |||||||
| chr7:50116796 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.651+12385T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116796 | |||||||
| chr7:50116922 | G | T | 158 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(155): Show |
166 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.651+12511G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116922 | |||||||
| chr7:50116936 | C | G | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.651+12525C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116936 | |||||||
| chr7:50116941 | C | T | 1 | a0002c0002t0003g0020 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.651+12530C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116941 | |||||||
| chr7:50117201 | C | T | 1 | a0002c0002t0001g0240 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.652-12516C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117201 | |||||||
| chr7:50117320 | C | G | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.652-12397C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117320 | |||||||
| chr7:50117344 | G | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-12373G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117344 | |||||||
| chr7:50117395 | G | A | 4 | a0001c0001t0001g0035 a0004c0004t0001g0032 a0004c0004t0001g0033 others(1): Show |
4 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-12322G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117395 | |||||||
| chr7:50117431 | A | AT | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-12286_652-1228 others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117431 | |||||||
| chr7:50117431 | A | T | 1 | a0001c0001t0001g0123 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.652-12286A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117431 | |||||||
| chr7:50117810 | T | A | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.652-11907T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117810 | |||||||
| chr7:50117868 | G | A | 1 | a0002c0002t0003g0243 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.652-11849G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117868 | |||||||
| chr7:50118002 | G | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-11715G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118002 | |||||||
| chr7:50118003 | T | C | 161 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(158): Show |
169 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.652-11714T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118003 | |||||||
| chr7:50118008 | A | G | 1 | a0004c0004t0001g0082 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.652-11709A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118008 | |||||||
| chr7:50118173 | G | A | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-11544G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118173 | |||||||
| chr7:50118223 | G | A | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-11494G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118223 | |||||||
| chr7:50118280 | G | C | 1 | a0002c0002t0001g0102 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.652-11437G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118280 | |||||||
| chr7:50118362 | G | A | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-11355G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118362 | |||||||
| chr7:50118547 | C | T | 6 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0004g0105 others(3): Show |
6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.652-11170C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118547 | |||||||
| chr7:50118796 | C | T | 161 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(158): Show |
169 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.652-10921C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118796 | |||||||
| chr7:50118890 | T | C | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-10827T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118890 | |||||||
| chr7:50118915 | T | C | 3 | a0001c0001t0001g0197 a0001c0001t0001g0239 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.652-10802T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118915 | |||||||
| chr7:50119016 | A | C | 1 | a0001c0001t0001g0113 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.652-10701A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119016 | |||||||
| chr7:50119027 | A | T | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-10690A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119027 | |||||||
| chr7:50119062 | C | T | 1 | a0004c0004t0001g0066 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.652-10655C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119062 | |||||||
| chr7:50119293 | A | G | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-10424A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119293 | |||||||
| chr7:50119590 | C | A | 1 | a0002c0005t0001g0256 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.652-10127C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119590 | |||||||
| chr7:50119592 | A | C | 1 | a0002c0005t0001g0256 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.652-10125A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119592 | |||||||
| chr7:50119739 | A | G | 1 | a0001c0001t0001g0197 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.652-9978A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119739 | |||||||
| chr7:50119761 | G | A | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-9956G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119761 | |||||||
| chr7:50119771 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-9946C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119771 | |||||||
| chr7:50119931 | T | G | 1 | a0001c0001t0001g0197 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.652-9786T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119931 | |||||||
| chr7:50119950 | C | T | 1 | a0001c0001t0001g0192 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.652-9767C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119950 | |||||||
| chr7:50120157 | A | G | 1 | a0002c0005t0001g0254 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.652-9560A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120157 | |||||||
| chr7:50120257 | C | T | 1 | a0001c0001t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.652-9460C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120257 | |||||||
| chr7:50120265 | C | T | 1 | a0001c0001t0001g0116 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.652-9452C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120265 | |||||||
| chr7:50120337 | A | C | 1 | a0001c0001t0001g0231 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.652-9380A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120337 | |||||||
| chr7:50120344 | A | G | 1 | a0001c0001t0001g0187 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.652-9373A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120344 | |||||||
| chr7:50120404 | G | A | 7 | a0001c0001t0001g0009 a0001c0001t0001g0127 a0001c0001t0001g0153 others(4): Show |
8 | HG00741.hp1 HG01070.hp1 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-9313G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120404 | |||||||
| chr7:50120433 | A | G | 7 | a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0001g0133 others(4): Show |
7 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.652-9284A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120433 | |||||||
| chr7:50120491 | C | T | 4 | a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0001g0133 others(1): Show |
4 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-9226C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120491 | |||||||
| chr7:50120527 | C | A | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-9190C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120527 | |||||||
| chr7:50120531 | A | C | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-9186A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120531 | |||||||
| chr7:50120593 | A | G | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-9124A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120593 | |||||||
| chr7:50121001 | A | T | 1 | a0001c0001t0001g0107 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.652-8716A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121001 | |||||||
| chr7:50121037 | C | T | 1 | a0002c0002t0001g0079 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.652-8680C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121037 | |||||||
| chr7:50121626 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.652-8091C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121626 | |||||||
| chr7:50121657 | T | C | 87 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(84): Show |
90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.652-8060T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121657 | |||||||
| chr7:50121806 | A | G | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.652-7911A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121806 | |||||||
| chr7:50121813 | C | T | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-7904C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121813 | |||||||
| chr7:50121834 | TC | T | 148 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(145): Show |
156 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(153): Show |
intron_variant | MODIFIER | c.652-7882delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121834 | |||||||
| chr7:50121835 | C | T | 14 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(11): Show |
14 | HG01884.hp1 HG01884.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.652-7882C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121835 | |||||||
| chr7:50121839 | T | C | 87 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(84): Show |
90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.652-7878T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121839 | |||||||
| chr7:50121908 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.652-7809C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121908 | |||||||
| chr7:50121909 | G | A | 5 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-7808G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121909 | |||||||
| chr7:50121920 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.652-7797G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121920 | |||||||
| chr7:50121974 | C | CAT | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-7742_652-7741d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50121974 | ||||||
| chr7:50122085 | CA | C | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-7630delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50122085 | ||||||
| chr7:50122095 | T | C | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-7622T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122095 | |||||||
| chr7:50122141 | G | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-7576G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122141 | |||||||
| chr7:50122238 | T | C | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.652-7479T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122238 | |||||||
| chr7:50122440 | T | C | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-7277T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122440 | |||||||
| chr7:50122655 | G | T | 161 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(158): Show |
169 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.652-7062G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122655 | |||||||
| chr7:50122704 | T | C | 2 | a0001c0001t0001g0136 a0001c0001t0001g0172 |
2 | NA18974.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.652-7013T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122704 | |||||||
| chr7:50122720 | G | C | 4 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(1): Show |
4 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-6997G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122720 | |||||||
| chr7:50122731 | A | G | 1 | a0002c0005t0001g0253 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.652-6986A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122731 | |||||||
| chr7:50122757 | G | A | 2 | a0001c0001t0001g0121 a0001c0001t0001g0188 |
2 | NA18747.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.652-6960G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122757 | |||||||
| chr7:50122804 | A | G | 1 | a0002c0002t0003g0241 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.652-6913A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122804 | |||||||
| chr7:50122804 | A | T | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.652-6913A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122804 | |||||||
| chr7:50122978 | A | T | 1 | a0001c0001t0001g0030 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.652-6739A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122978 | |||||||
| chr7:50123002 | A | T | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-6715A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123002 | |||||||
| chr7:50123010 | C | G | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-6707C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123010 | |||||||
| chr7:50123015 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-6702C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123015 | |||||||
| chr7:50123082 | G | A | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-6635G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123082 | |||||||
| chr7:50123118 | G | A | 165 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(162): Show |
173 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.652-6599G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123118 | |||||||
| chr7:50123177 | A | T | 12 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(9): Show |
12 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.652-6540A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123177 | |||||||
| chr7:50123269 | G | C | 1 | a0001c0001t0001g0116 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.652-6448G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123269 | |||||||
| chr7:50123334 | G | A | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-6383G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123334 | |||||||
| chr7:50123422 | T | TG | 6 | a0001c0001t0001g0186 a0001c0001t0001g0218 a0001c0001t0002g0152 others(3): Show |
6 | HG01192.hp2 HG02572.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.652-6290dupG | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123422 | ||||||
| chr7:50123428 | A | G | 249 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(246): Show |
260 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.652-6289A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123428 | |||||||
| chr7:50123429 | A | G | 5 | a0001c0001t0001g0186 a0001c0001t0001g0218 a0001c0001t0002g0152 others(2): Show |
5 | HG01192.hp2 HG02572.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-6288A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123429 | |||||||
| chr7:50123457 | A | G | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-6260A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123457 | |||||||
| chr7:50123527 | A | C | 115 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(112): Show |
121 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.652-6190A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123527 | |||||||
| chr7:50123567 | T | TAATA | 79 | a0001c0001t0001g0167 a0002c0002t0001g0003 a0002c0002t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.652-6119_652-6116d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | ||||||
| chr7:50123567 | T | TAATAAAT others(1): Show |
14 | a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0005t0001g0250 others(11): Show |
14 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.652-6123_652-6116d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | ||||||
| chr7:50123567 | TAATA | T | 98 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(95): Show |
104 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.652-6119_652-6116d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | ||||||
| chr7:50123711 | T | C | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.652-6006T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123711 | |||||||
| chr7:50123793 | C | A | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.652-5924C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123793 | |||||||
| chr7:50123813 | GA | G | 67 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(64): Show |
70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.652-5902delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123813 | ||||||
| chr7:50123830 | C | T | 8 | a0001c0001t0002g0002 a0001c0001t0002g0126 a0001c0001t0002g0148 others(5): Show |
11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
intron_variant | MODIFIER | c.652-5887C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123830 | |||||||
| chr7:50123849 | C | T | 1 | a0003c0003t0001g0265 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.652-5868C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123849 | |||||||
| chr7:50124373 | T | C | 1 | a0004c0004t0001g0224 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.652-5344T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124373 | |||||||
| chr7:50124381 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-5336C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124381 | |||||||
| chr7:50124433 | C | A | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-5284C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124433 | |||||||
| chr7:50124613 | C | T | 1 | a0004c0004t0001g0082 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.652-5104C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124613 | |||||||
| chr7:50124836 | C | T | 1 | a0002c0002t0001g0092 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.652-4881C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124836 | |||||||
| chr7:50124896 | C | A | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-4821C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124896 | |||||||
| chr7:50124942 | C | T | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-4775C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124942 | |||||||
| chr7:50125094 | G | GTA | 12 | a0002c0002t0001g0003 a0002c0002t0001g0278 a0002c0005t0001g0259 others(9): Show |
15 | HG00642.hp1 HG01074.hp1 HG01167.hp2 others(12): Show |
intron_variant | MODIFIER | c.652-4602_652-4601d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125094 | ||||||
| chr7:50125094 | G | GTATATAT others(5): Show |
1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.652-4612_652-4601d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125094 | ||||||
| chr7:50125096 | A | G | 1 | a0002c0005t0001g0250 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.652-4621A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125096 | |||||||
| chr7:50125109 | T | C | 25 | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0163 others(22): Show |
27 | HG01099.hp1 HG01243.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.652-4608T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125109 | |||||||
| chr7:50125111 | T | C | 159 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(156): Show |
167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.652-4606T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125111 | |||||||
| chr7:50125113 | T | C | 161 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(158): Show |
169 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.652-4604T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125113 | |||||||
| chr7:50125115 | T | C | 161 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(158): Show |
169 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.652-4602T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125115 | |||||||
| chr7:50125115 | T | TATATATA others(15): Show |
2 | a0002c0005t0001g0303 a0004c0007t0001g0301 |
2 | HG02135.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | T | TATATATA others(11): Show |
2 | a0002c0002t0001g0117 a0002c0010t0001g0305 |
2 | HG02165.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.652-4601_652-4600i others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | T | TATATATA others(15): Show |
1 | a0004c0007t0001g0304 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | T | TATATATA others(19): Show |
1 | a0004c0007t0001g0302 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(28): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | T | TATATATA others(15): Show |
1 | a0002c0005t0001g0307 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | T | TATATATA others(17): Show |
1 | a0002c0010t0001g0306 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125115 | TACACAC | T | 5 | a0002c0005t0001g0250 a0002c0005t0001g0252 a0002c0005t0001g0253 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4580_652-4575d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | ||||||
| chr7:50125117 | C | T | 80 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(77): Show |
83 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.652-4600C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125117 | |||||||
| chr7:50125119 | C | T | 72 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(69): Show |
75 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(72): Show |
intron_variant | MODIFIER | c.652-4598C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125119 | |||||||
| chr7:50125121 | C | T | 71 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(68): Show |
74 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.652-4596C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125121 | |||||||
| chr7:50125123 | C | T | 75 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(72): Show |
78 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.652-4594C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125123 | |||||||
| chr7:50125125 | C | T | 76 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(73): Show |
79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4592C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125125 | |||||||
| chr7:50125127 | C | CAT | 158 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(155): Show |
166 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.652-4589_652-4588i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125127 | ||||||
| chr7:50125127 | C | T | 76 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(73): Show |
79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4590C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125127 | |||||||
| chr7:50125129 | C | T | 77 | a0001c0001t0001g0170 a0002c0002t0001g0003 a0002c0002t0001g0004 others(74): Show |
80 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.652-4588C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125129 | |||||||
| chr7:50125131 | C | T | 77 | a0001c0001t0001g0206 a0002c0002t0001g0003 a0002c0002t0001g0004 others(74): Show |
80 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.652-4586C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125131 | |||||||
| chr7:50125133 | C | T | 76 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(73): Show |
79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4584C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125133 | |||||||
| chr7:50125135 | C | T | 69 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(66): Show |
72 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.652-4582C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125135 | |||||||
| chr7:50125137 | C | T | 62 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0002c0002t0001g0003 others(59): Show |
65 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(62): Show |
intron_variant | MODIFIER | c.652-4580C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125137 | |||||||
| chr7:50125139 | C | T | 191 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(188): Show |
201 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(198): Show |
intron_variant | MODIFIER | c.652-4578C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125139 | |||||||
| chr7:50125141 | C | T | 169 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(166): Show |
177 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.652-4576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125141 | |||||||
| chr7:50125141 | CAT | C | 22 | a0002c0002t0001g0006 a0002c0002t0001g0037 a0002c0002t0001g0038 others(19): Show |
23 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(20): Show |
intron_variant | MODIFIER | c.652-4572_652-4571d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125141 | ||||||
| chr7:50125141 | CATAT | C | 29 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0002c0002t0001g0004 others(26): Show |
30 | HG00099.hp1 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.652-4574_652-4571d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125141 | ||||||
| chr7:50125143 | T | C | 19 | a0002c0002t0001g0003 a0002c0002t0001g0025 a0002c0002t0001g0036 others(16): Show |
20 | HG00741.hp2 HG01069.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.652-4574T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125143 | |||||||
| chr7:50125145 | T | C | 41 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0025 others(38): Show |
43 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show |
intron_variant | MODIFIER | c.652-4572T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125145 | |||||||
| chr7:50125149 | C | T | 1 | a0002c0005t0001g0260 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.652-4568C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125149 | |||||||
| chr7:50125151 | CATAT | C | 5 | a0002c0005t0001g0250 a0002c0005t0001g0252 a0002c0005t0001g0253 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4560_652-4557d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | ||||||
| chr7:50125151 | CATATAT | C | 7 | a0002c0002t0001g0036 a0002c0002t0001g0050 a0002c0002t0001g0061 others(4): Show |
7 | HG01433.hp2 HG02056.hp2 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4562_652-4557d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | ||||||
| chr7:50125151 | CATATATA others(1): Show |
C | 6 | a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 others(3): Show |
6 | HG01069.hp2 HG01081.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.652-4564_652-4557d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | ||||||
| chr7:50125153 | T | C | 58 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(55): Show |
61 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.652-4564T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125153 | |||||||
| chr7:50125155 | T | C | 58 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(55): Show |
61 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.652-4562T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125155 | |||||||
| chr7:50125157 | T | C | 63 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(60): Show |
66 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.652-4560T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125157 | |||||||
| chr7:50125159 | T | C | 70 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(67): Show |
73 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.652-4558T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125159 | |||||||
| chr7:50125165 | T | C | 7 | a0002c0002t0001g0097 a0002c0005t0001g0250 a0002c0005t0001g0252 others(4): Show |
7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4552T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125165 | |||||||
| chr7:50125167 | T | C | 7 | a0002c0002t0001g0097 a0002c0005t0001g0250 a0002c0005t0001g0252 others(4): Show |
7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4550T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125167 | |||||||
| chr7:50125169 | T | C | 76 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(73): Show |
79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4548T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125169 | |||||||
| chr7:50125171 | C | T | 1 | a0002c0005t0001g0259 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.652-4546C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125171 | |||||||
| chr7:50125173 | CAT | C | 156 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(153): Show |
164 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.652-4536_652-4535d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125173 | ||||||
| chr7:50125175 | T | C | 7 | a0002c0002t0001g0097 a0002c0005t0001g0250 a0002c0005t0001g0252 others(4): Show |
7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4542T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125175 | |||||||
| chr7:50125181 | T | C | 10 | a0002c0002t0001g0097 a0002c0005t0001g0250 a0002c0005t0001g0252 others(7): Show |
10 | HG01993.hp2 HG02622.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.652-4536T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125181 | |||||||
| chr7:50125185 | C | CATATATA others(5): Show |
1 | a0003c0003t0001g0299 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.652-4502_652-4491d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125185 | ||||||
| chr7:50125185 | C | T | 4 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0004c0004t0001g0220 others(1): Show |
4 | HG01993.hp2 HG03041.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4532C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125185 | |||||||
| chr7:50125185 | CATATATA others(5): Show |
C | 3 | a0002c0005t0001g0251 a0002c0005t0001g0261 a0002c0005t0001g0263 |
3 | HG01891.hp2 HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.652-4502_652-4491d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125185 | ||||||
| chr7:50125193 | C | T | 164 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(161): Show |
172 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.652-4524C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125193 | |||||||
| chr7:50125195 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4522C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125195 | |||||||
| chr7:50125195 | CAT | C | 4 | a0001c0001t0001g0147 a0002c0002t0003g0020 a0002c0005t0001g0260 others(1): Show |
4 | HG03139.hp2 HG03516.hp2 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-4514_652-4513d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125195 | ||||||
| chr7:50125197 | T | C | 7 | a0002c0002t0001g0097 a0002c0005t0001g0250 a0002c0005t0001g0252 others(4): Show |
7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4520T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125197 | |||||||
| chr7:50125197 | T | TATATACA others(1): Show |
5 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4515_652-4514i others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125197 | ||||||
| chr7:50125197 | TATATATA others(15): Show |
T | 1 | a0003c0003t0001g0288 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.652-4474_652-4453d others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125197 | ||||||
| chr7:50125199 | T | C | 1 | a0002c0002t0001g0117 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.652-4518T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125199 | |||||||
| chr7:50125203 | T | C | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4514T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125203 | |||||||
| chr7:50125205 | C | T | 5 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4512C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125205 | |||||||
| chr7:50125207 | CAT | C | 74 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(71): Show |
77 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.652-4502_652-4501d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125207 | ||||||
| chr7:50125209 | T | C | 5 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4508T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125209 | |||||||
| chr7:50125227 | C | T | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4490C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125227 | |||||||
| chr7:50125231 | T | C | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4486T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125231 | |||||||
| chr7:50125249 | C | T | 163 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(160): Show |
171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4468C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125249 | |||||||
| chr7:50125252 | A | C | 127 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(124): Show |
133 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.652-4465A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125252 | |||||||
| chr7:50125253 | T | C | 163 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(160): Show |
171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4464T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125253 | |||||||
| chr7:50125253 | TATATATA others(17): Show |
T | 1 | a0003c0003t0001g0286 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.652-4452_652-4429d others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125253 | ||||||
| chr7:50125261 | C | CACATATA others(1): Show |
4 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(1): Show |
4 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-4453_652-4452i others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125261 | ||||||
| chr7:50125261 | C | T | 118 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(115): Show |
123 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.652-4456C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125261 | |||||||
| chr7:50125261 | CACACAT | C | 127 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(124): Show |
133 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.652-4454_652-4449d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125261 | ||||||
| chr7:50125264 | A | C | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4453A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125264 | |||||||
| chr7:50125265 | C | T | 3 | a0002c0002t0003g0020 a0002c0005t0001g0260 a0003c0006t0001g0300 |
3 | HG03139.hp2 HG03516.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.652-4452C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125265 | |||||||
| chr7:50125271 | TATAC | T | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4444_652-4441d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125271 | ||||||
| chr7:50125273 | T | C | 2 | a0002c0005t0001g0260 a0003c0006t0001g0300 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4444T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125273 | |||||||
| chr7:50125276 | A | C | 2 | a0001c0001t0001g0128 a0001c0001t0001g0147 |
2 | HG03209.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.652-4441A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125276 | |||||||
| chr7:50125277 | C | T | 2 | a0002c0005t0001g0260 a0003c0006t0001g0300 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4440C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125277 | |||||||
| chr7:50125285 | C | T | 132 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(129): Show |
138 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.652-4432C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125285 | |||||||
| chr7:50125286 | A | C | 2 | a0002c0005t0001g0260 a0003c0006t0001g0300 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4431A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125286 | |||||||
| chr7:50125289 | T | C | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4428T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125289 | |||||||
| chr7:50125299 | C | T | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4418C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125299 | |||||||
| chr7:50125301 | T | C | 127 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(124): Show |
133 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.652-4416T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125301 | |||||||
| chr7:50125303 | TATATACC others(9): Show |
T | 127 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(124): Show |
133 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.652-4408_652-4393d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125303 | ||||||
| chr7:50125307 | T | C | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4410T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125307 | |||||||
| chr7:50125310 | C | A | 37 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0128 others(34): Show |
39 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(36): Show |
intron_variant | MODIFIER | c.652-4407C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125310 | |||||||
| chr7:50125311 | C | T | 4 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0002c0005t0001g0260 others(1): Show |
4 | HG03139.hp2 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4406C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125311 | |||||||
| chr7:50125313 | TATATAC | T | 33 | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0001g0197 others(30): Show |
35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4398_652-4393d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125313 | ||||||
| chr7:50125319 | C | CACACAT | 4 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0002c0005t0001g0260 others(1): Show |
4 | HG03139.hp2 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4397_652-4396i others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | ||||||
| chr7:50125319 | C | CATATATA others(29): Show |
1 | a0002c0002t0001g0095 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.652-4371_652-4370i others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | ||||||
| chr7:50125319 | C | CATATATA others(29): Show |
76 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(73): Show |
79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4376_652-4341d others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | ||||||
| chr7:50125319 | C | CATATATA others(31): Show |
5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4369_652-4368i others(40): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | ||||||
| chr7:50125339 | CAT | C | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4370_652-4369d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125339 | ||||||
| chr7:50125366 | A | ATATATAT others(29): Show |
8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-4341_652-4340i others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125366 | ||||||
| chr7:50125373 | TAC | T | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4340_652-4339d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125373 | ||||||
| chr7:50125399 | CAT | C | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4308_652-4307d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125399 | ||||||
| chr7:50125506 | A | G | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4211A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125506 | |||||||
| chr7:50125585 | G | GGT | 21 | a0001c0001t0001g0199 a0001c0001t0001g0237 a0002c0005t0001g0250 others(18): Show |
22 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(19): Show |
intron_variant | MODIFIER | c.652-4099_652-4098d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | ||||||
| chr7:50125585 | GGT | G | 202 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(199): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
intron_variant | MODIFIER | c.652-4099_652-4098d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | ||||||
| chr7:50125585 | GGTGT | G | 13 | a0001c0001t0001g0029 a0001c0001t0001g0131 a0001c0001t0001g0147 others(10): Show |
13 | HG00597.hp1 HG00609.hp1 HG02080.hp1 others(10): Show |
intron_variant | MODIFIER | c.652-4101_652-4098d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | ||||||
| chr7:50125585 | GGTGTGTG others(7): Show |
G | 1 | a0003c0003t0001g0013 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.652-4111_652-4098d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | ||||||
| chr7:50125670 | A | G | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4047A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125670 | |||||||
| chr7:50125683 | T | C | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4034T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125683 | |||||||
| chr7:50125685 | G | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4032G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125685 | |||||||
| chr7:50125692 | C | T | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4025C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125692 | |||||||
| chr7:50125756 | T | C | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-3961T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125756 | |||||||
| chr7:50125984 | A | G | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-3733A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125984 | |||||||
| chr7:50126072 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.652-3645C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126072 | |||||||
| chr7:50126124 | G | A | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-3593G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126124 | |||||||
| chr7:50126187 | A | T | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-3530A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126187 | |||||||
| chr7:50126222 | T | TA | 159 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(156): Show |
167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.652-3489dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50126222 | ||||||
| chr7:50126345 | A | G | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-3372A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126345 | |||||||
| chr7:50126362 | T | C | 1 | a0001c0001t0001g0118 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.652-3355T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126362 | |||||||
| chr7:50126379 | GT | G | 48 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0026 others(45): Show |
50 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.652-3328delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50126379 | ||||||
| chr7:50126476 | A | G | 5 | a0001c0001t0001g0035 a0001c0001t0001g0289 a0004c0004t0001g0032 others(2): Show |
5 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-3241A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126476 | |||||||
| chr7:50126519 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-3198C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126519 | |||||||
| chr7:50126680 | A | C | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-3037A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126680 | |||||||
| chr7:50126899 | T | G | 1 | a0003c0003t0001g0271 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.652-2818T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126899 | |||||||
| chr7:50126936 | C | T | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-2781C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126936 | |||||||
| chr7:50127105 | C | A | 67 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(64): Show |
70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.652-2612C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127105 | |||||||
| chr7:50127215 | T | C | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-2502T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127215 | |||||||
| chr7:50127232 | C | T | 1 | a0001c0001t0001g0129 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.652-2485C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127232 | |||||||
| chr7:50127390 | A | C | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-2327A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127390 | |||||||
| chr7:50127514 | AC | A | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-2201delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127514 | ||||||
| chr7:50127599 | G | A | 1 | a0003c0006t0001g0300 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.652-2118G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127599 | |||||||
| chr7:50127617 | C | CTA | 19 | a0002c0002t0001g0278 a0003c0003t0001g0012 a0003c0003t0001g0014 others(16): Show |
23 | HG00140.hp1 HG00738.hp1 HG01070.hp2 others(20): Show |
intron_variant | MODIFIER | c.652-2083_652-2082d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATA | 26 | a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0001g0165 others(23): Show |
30 | HG01993.hp2 HG02257.hp2 HG02258.hp1 others(27): Show |
intron_variant | MODIFIER | c.652-2085_652-2082d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATA | 14 | a0001c0001t0001g0035 a0001c0001t0001g0199 a0001c0001t0001g0208 others(11): Show |
15 | HG01433.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.652-2087_652-2082d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATAT others(1): Show |
9 | a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0104 others(6): Show |
10 | HG01243.hp1 HG02145.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.652-2089_652-2082d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATAT others(3): Show |
37 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(34): Show |
37 | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.652-2091_652-2082d others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATAT others(5): Show |
60 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0106 others(57): Show |
63 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(60): Show |
intron_variant | MODIFIER | c.652-2093_652-2082d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATAT others(7): Show |
22 | a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0001g0122 others(19): Show |
23 | HG00423.hp2 HG00741.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.652-2095_652-2082d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | C | CTATATAT others(9): Show |
1 | a0001c0001t0001g0146 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.652-2097_652-2082d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127617 | CTA | C | 9 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(6): Show |
9 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(6): Show |
intron_variant | MODIFIER | c.652-2083_652-2082d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | ||||||
| chr7:50127634 | T | TAC | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-2082_652-2081d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127634 | ||||||
| chr7:50127838 | A | G | 1 | a0004c0004t0001g0094 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.652-1879A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127838 | |||||||
| chr7:50127889 | A | G | 2 | a0001c0001t0001g0107 a0001c0001t0001g0109 |
2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.652-1828A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127889 | |||||||
| chr7:50127897 | C | G | 1 | a0001c0001t0001g0196 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.652-1820C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127897 | |||||||
| chr7:50127991 | A | G | 1 | a0003c0006t0001g0300 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.652-1726A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127991 | |||||||
| chr7:50128105 | TATATACA others(2): Show |
T | 20 | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 others(17): Show |
23 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.652-1609_652-1601d others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50128105 | ||||||
| chr7:50128168 | G | A | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-1549G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128168 | |||||||
| chr7:50128192 | G | C | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-1525G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128192 | |||||||
| chr7:50128248 | C | T | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-1469C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128248 | |||||||
| chr7:50128386 | C | A | 1 | a0003c0003t0001g0012 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.652-1331C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128386 | |||||||
| chr7:50128417 | G | C | 1 | a0003c0003t0001g0012 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.652-1300G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128417 | |||||||
| chr7:50128542 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.652-1175G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128542 | |||||||
| chr7:50128587 | T | C | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-1130T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128587 | |||||||
| chr7:50128661 | C | A | 162 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(159): Show |
170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-1056C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128661 | |||||||
| chr7:50128813 | T | C | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-904T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128813 | |||||||
| chr7:50128839 | A | T | 1 | a0002c0002t0003g0243 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.652-878A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128839 | |||||||
| chr7:50128862 | A | G | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-855A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128862 | |||||||
| chr7:50128974 | T | C | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.652-743T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128974 | |||||||
| chr7:50129011 | G | A | 1 | a0003c0003t0001g0072 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.652-706G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129011 | |||||||
| chr7:50129099 | T | C | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.652-618T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129099 | |||||||
| chr7:50129104 | G | A | 1 | a0001c0001t0001g0173 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.652-613G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129104 | |||||||
| chr7:50129125 | G | T | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-592G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129125 | |||||||
| chr7:50129527 | C | A | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.652-190C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129527 | |||||||
| chr7:50129651 | A | G | 3 | a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0237 |
3 | HG02622.hp1 HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.652-66A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129651 | |||||||
| chr7:50129711 | T | G | 1 | a0001c0001t0001g0197 | 1 | HG02922.hp2 | splice_region_variant&intron_variant | LOW | c.652-6T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129711 | |||||||
| chr7:50129912 | G | A | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.728+119G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129912 | |||||||
| chr7:50129959 | G | C | 1 | a0001c0001t0001g0174 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.728+166G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129959 | |||||||
| chr7:50129999 | T | A | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.728+206T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129999 | |||||||
| chr7:50130164 | T | C | 1 | a0003c0006t0001g0300 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.728+371T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130164 | |||||||
| chr7:50130241 | C | A | 67 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(64): Show |
70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.728+448C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130241 | |||||||
| chr7:50130427 | C | A | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.728+634C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130427 | |||||||
| chr7:50130433 | C | T | 1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.728+640C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130433 | |||||||
| chr7:50130460 | C | T | 3 | a0003c0006t0001g0130 a0003c0006t0001g0210 a0008c0014t0004g0209 |
3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.728+667C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130460 | |||||||
| chr7:50130494 | C | G | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.728+701C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130494 | |||||||
| chr7:50130496 | CAGGTAAG others(4): Show |
C | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+705_728+715del others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50130496 | ||||||
| chr7:50130508 | A | C | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+715A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130508 | |||||||
| chr7:50130510 | T | G | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+717T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130510 | |||||||
| chr7:50130532 | G | T | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.728+739G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130532 | |||||||
| chr7:50130562 | G | C | 2 | a0001c0001t0001g0239 a0004c0004t0001g0238 |
2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.728+769G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130562 | |||||||
| chr7:50130655 | A | G | 10 | a0001c0001t0001g0190 a0003c0003t0001g0016 a0003c0003t0001g0017 others(7): Show |
12 | HG00642.hp1 HG01167.hp2 HG01168.hp1 others(9): Show |
intron_variant | MODIFIER | c.728+862A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130655 | |||||||
| chr7:50130712 | G | A | 1 | a0003c0003t0001g0282 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.728+919G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130712 | |||||||
| chr7:50130727 | C | T | 4 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0183 others(1): Show |
4 | HG01928.hp2 NA18946.hp2 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.728+934C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130727 | |||||||
| chr7:50130728 | A | G | 17 | a0001c0001t0005g0221 a0004c0004t0001g0005 a0004c0004t0001g0011 others(14): Show |
19 | HG01891.hp1 HG02280.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.728+935A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130728 | |||||||
| chr7:50130742 | G | T | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+949G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130742 | |||||||
| chr7:50130814 | A | G | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.728+1021A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130814 | |||||||
| chr7:50130828 | C | T | 1 | a0001c0001t0001g0234 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.728+1035C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130828 | |||||||
| chr7:50130930 | G | A | 8 | a0003c0003t0001g0018 a0003c0003t0001g0269 a0003c0003t0001g0270 others(5): Show |
9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.728+1137G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130930 | |||||||
| chr7:50131007 | G | A | 1 | a0003c0003t0001g0078 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.728+1214G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131007 | |||||||
| chr7:50131239 | A | G | 1 | a0001c0001t0001g0229 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.728+1446A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131239 | |||||||
| chr7:50131274 | C | T | 1 | a0002c0002t0001g0058 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.728+1481C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131274 | |||||||
| chr7:50131338 | A | G | 5 | a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 others(2): Show |
5 | NA18612.hp2 NA18747.hp2 NA18972.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+1545A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131338 | |||||||
| chr7:50131422 | C | T | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.728+1629C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131422 | |||||||
| chr7:50131589 | G | A | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+1796G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131589 | |||||||
| chr7:50131876 | A | G | 253 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(250): Show |
264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.728+2083A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131876 | |||||||
| chr7:50131895 | G | T | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.728+2102G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131895 | |||||||
| chr7:50131930 | G | A | 1 | a0002c0002t0001g0052 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.728+2137G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131930 | |||||||
| chr7:50131936 | T | A | 158 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(155): Show |
166 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.728+2143T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131936 | |||||||
| chr7:50131950 | A | G | 1 | a0001c0001t0001g0110 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.728+2157A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131950 | |||||||
| chr7:50132015 | A | T | 1 | a0002c0005t0001g0255 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.729-2093A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132015 | |||||||
| chr7:50132256 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.729-1852T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132256 | |||||||
| chr7:50132528 | T | G | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.729-1580T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132528 | |||||||
| chr7:50132578 | G | T | 1 | a0004c0004t0001g0082 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.729-1530G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132578 | |||||||
| chr7:50132872 | T | C | 95 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(92): Show |
98 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.729-1236T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132872 | |||||||
| chr7:50132882 | A | G | 95 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(92): Show |
98 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.729-1226A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132882 | |||||||
| chr7:50133091 | T | C | 3 | a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0187 |
3 | HG00609.hp1 NA18612.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.729-1017T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133091 | |||||||
| chr7:50133164 | T | G | 1 | a0001c0001t0001g0215 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.729-944T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133164 | |||||||
| chr7:50133219 | ATTTGTGT others(7): Show |
A | 5 | a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 others(2): Show |
5 | NA18612.hp2 NA18747.hp2 NA18972.hp1 others(2): Show |
intron_variant | MODIFIER | c.729-873_729-860del others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50133219 | ||||||
| chr7:50133235 | TTG | T | 157 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(154): Show |
165 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.729-853_729-852del others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50133235 | ||||||
| chr7:50133241 | G | A | 1 | a0003c0003t0001g0016 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.729-867G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133241 | |||||||
| chr7:50133281 | C | A | 66 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(63): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.729-827C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133281 | |||||||
| chr7:50133369 | G | A | 2 | a0001c0001t0001g0163 a0001c0001t0001g0200 |
2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.729-739G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133369 | |||||||
| chr7:50133514 | T | C | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.729-594T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133514 | |||||||
| chr7:50133685 | A | G | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.729-423A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133685 | |||||||
| chr7:50133989 | C | A | 4 | a0001c0001t0001g0128 a0001c0001t0001g0162 a0001c0001t0001g0198 others(1): Show |
4 | HG02622.hp1 HG03130.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.729-119C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133989 | |||||||
| chr7:50134089 | C | T | 5 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(2): Show |
5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.729-19C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50134089 | |||||||
| chr7:50134106 | A | G | 1 | a0004c0004t0001g0224 | 1 | HG03225.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.729-2A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50134106 | |||||||
| chr7:50134289 | T | C | 1 | a0002c0005t0001g0257 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.867+43T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134289 | |||||||
| chr7:50134346 | C | T | 1 | a0002c0005t0001g0263 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.867+100C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134346 | |||||||
| chr7:50134377 | AAT | A | 6 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(3): Show |
6 | HG02015.hp1 HG02300.hp2 NA18944.hp2 others(3): Show |
intron_variant | MODIFIER | c.867+139_867+140del others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134377 | ||||||
| chr7:50134381 | T | C | 1 | a0001c0001t0001g0162 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.867+135T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134381 | |||||||
| chr7:50134381 | T | TAC | 4 | a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0181 others(1): Show |
4 | HG00423.hp2 HG02165.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.867+136_867+137ins others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134381 | ||||||
| chr7:50134383 | T | C | 156 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(153): Show |
164 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.867+137T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134383 | |||||||
| chr7:50134383 | T | TAC | 8 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(5): Show |
8 | HG02630.hp1 HG02717.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.867+138_867+139ins others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134383 | ||||||
| chr7:50134385 | T | C | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.867+139T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134385 | |||||||
| chr7:50134463 | T | C | 254 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(251): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.867+217T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134463 | |||||||
| chr7:50134744 | T | C | 1 | a0003c0006t0001g0249 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.867+498T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134744 | |||||||
| chr7:50134829 | G | A | 2 | a0002c0005t0001g0259 a0002c0005t0001g0260 |
2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.867+583G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134829 | |||||||
| chr7:50134961 | C | T | 159 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(156): Show |
167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.867+715C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134961 | |||||||
| chr7:50134978 | C | T | 92 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(89): Show |
95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.867+732C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134978 | |||||||
| chr7:50135008 | A | G | 3 | a0001c0001t0001g0197 a0001c0001t0001g0239 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.867+762A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135008 | |||||||
| chr7:50135078 | C | T | 17 | a0001c0001t0005g0221 a0004c0004t0001g0005 a0004c0004t0001g0011 others(14): Show |
19 | HG01891.hp1 HG02280.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.867+832C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135078 | |||||||
| chr7:50135180 | C | T | 8 | a0001c0001t0002g0002 a0001c0001t0002g0126 a0001c0001t0002g0148 others(5): Show |
11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
intron_variant | MODIFIER | c.868-918C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135180 | |||||||
| chr7:50135232 | G | A | 8 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(5): Show |
8 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.868-866G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135232 | |||||||
| chr7:50135283 | C | T | 5 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(2): Show |
5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.868-815C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135283 | |||||||
| chr7:50135303 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.868-795C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135303 | |||||||
| chr7:50135636 | G | A | 2 | a0003c0003t0001g0273 a0003c0003t0001g0274 |
2 | NA18612.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.868-462G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135636 | |||||||
| chr7:50135692 | T | C | 1 | a0002c0005t0001g0262 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.868-406T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135692 | |||||||
| chr7:50135839 | C | T | 155 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(152): Show |
163 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.868-259C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135839 | |||||||
| chr7:50136057 | C | A | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.868-41C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136057 | |||||||
| chr7:50136058 | G | A | 91 | a0001c0001t0001g0124 a0001c0001t0001g0289 a0002c0002t0001g0003 others(88): Show |
94 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.868-40G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136058 | |||||||
| chr7:50136085 | C | T | 155 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(152): Show |
163 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.868-13C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136085 | |||||||
| chr7:50136195 | T | C | 2 | a0003c0003t0001g0287 a0003c0003t0001g0288 |
2 | HG02976.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.935+30T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136195 | |||||||
| chr7:50136239 | T | C | 1 | a0003c0003t0001g0266 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.935+74T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136239 | |||||||
| chr7:50136314 | T | A | 1 | a0001c0001t0001g0116 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.935+149T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136314 | |||||||
| chr7:50136467 | A | AT | 252 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(249): Show |
263 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(260): Show |
intron_variant | MODIFIER | c.935+303dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50136467 | ||||||
| chr7:50136486 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.935+321C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136486 | |||||||
| chr7:50136567 | A | G | 155 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(152): Show |
163 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(160): Show |
intron_variant | MODIFIER | c.935+402A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136567 | |||||||
| chr7:50136579 | A | G | 3 | a0003c0003t0001g0024 a0003c0003t0001g0266 a0003c0003t0001g0298 |
3 | HG02074.hp1 NA19064.hp2 NA19089.hp1 |
intron_variant | MODIFIER | c.935+414A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136579 | |||||||
| chr7:50136580 | C | A | 2 | a0002c0010t0001g0305 a0002c0010t0001g0306 |
2 | HG02165.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.935+415C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136580 | |||||||
| chr7:50136720 | C | T | 16 | a0001c0001t0001g0289 a0002c0005t0001g0250 a0002c0005t0001g0251 others(13): Show |
16 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.935+555C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136720 | |||||||
| chr7:50136753 | T | TA | 7 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(4): Show |
7 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.935+594dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50136753 | ||||||
| chr7:50136803 | A | G | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.935+638A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136803 | |||||||
| chr7:50136813 | G | T | 246 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(243): Show |
257 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.935+648G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136813 | |||||||
| chr7:50136887 | A | G | 4 | a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 others(1): Show |
4 | HG00140.hp1 HG00738.hp1 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.935+722A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136887 | |||||||
| chr7:50136934 | T | C | 1 | a0002c0005t0001g0260 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.935+769T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136934 | |||||||
| chr7:50136974 | T | A | 2 | a0001c0001t0002g0126 a0001c0001t0002g0151 |
2 | HG00099.hp2 HG00735.hp1 |
intron_variant | MODIFIER | c.935+809T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136974 | |||||||
| chr7:50137025 | G | A | 1 | a0003c0003t0001g0271 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.935+860G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137025 | |||||||
| chr7:50137183 | A | G | 135 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(132): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.935+1018A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137183 | |||||||
| chr7:50137326 | C | G | 245 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(242): Show |
256 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.935+1161C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137326 | |||||||
| chr7:50137343 | A | G | 7 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(4): Show |
7 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.935+1178A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137343 | |||||||
| chr7:50137346 | T | C | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.935+1181T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137346 | |||||||
| chr7:50137373 | G | GT | 3 | a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0187 |
3 | HG00609.hp1 NA18612.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.935+1212dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50137373 | ||||||
| chr7:50137549 | G | A | 134 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show |
140 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.935+1384G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137549 | |||||||
| chr7:50137560 | T | C | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.935+1395T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137560 | |||||||
| chr7:50137642 | G | A | 1 | a0001c0001t0001g0188 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.935+1477G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137642 | |||||||
| chr7:50137673 | T | C | 2 | a0001c0001t0001g0173 a0001c0001t0001g0175 |
2 | HG00280.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.935+1508T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137673 | |||||||
| chr7:50137686 | T | TA | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.935+1530dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50137686 | ||||||
| chr7:50137838 | T | C | 1 | a0003c0003t0001g0293 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.935+1673T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137838 | |||||||
| chr7:50138110 | T | C | 135 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(132): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.935+1945T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138110 | |||||||
| chr7:50138299 | C | T | 7 | a0001c0001t0001g0128 a0001c0001t0001g0162 a0001c0001t0001g0198 others(4): Show |
7 | HG02280.hp1 HG02622.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.936-1841C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138299 | |||||||
| chr7:50138446 | C | T | 1 | a0002c0002t0001g0042 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.936-1694C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138446 | |||||||
| chr7:50138620 | T | C | 138 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
144 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(141): Show |
intron_variant | MODIFIER | c.936-1520T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138620 | |||||||
| chr7:50138764 | A | AT | 8 | a0001c0001t0001g0035 a0002c0005t0001g0255 a0002c0005t0001g0256 others(5): Show |
8 | HG00280.hp1 HG02055.hp2 HG04199.hp1 others(5): Show |
intron_variant | MODIFIER | c.936-1363dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138764 | ||||||
| chr7:50138764 | A | ATT | 69 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(66): Show |
73 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.936-1364_936-1363d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138764 | ||||||
| chr7:50138769 | T | TTA | 51 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0026 others(48): Show |
53 | HG00639.hp2 HG00741.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.936-1370_936-1369i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138769 | ||||||
| chr7:50138795 | G | A | 248 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(245): Show |
259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.936-1345G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138795 | |||||||
| chr7:50138981 | T | G | 1 | a0001c0001t0001g0138 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.936-1159T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138981 | |||||||
| chr7:50139025 | T | C | 110 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(107): Show |
115 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.936-1115T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139025 | |||||||
| chr7:50139122 | A | G | 248 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(245): Show |
259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.936-1018A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139122 | |||||||
| chr7:50139145 | T | C | 1 | a0001c0001t0001g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.936-995T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139145 | |||||||
| chr7:50139157 | T | G | 1 | a0004c0004t0001g0032 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.936-983T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139157 | |||||||
| chr7:50139241 | C | T | 1 | a0002c0002t0001g0092 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.936-899C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139241 | |||||||
| chr7:50139336 | C | T | 138 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
144 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(141): Show |
intron_variant | MODIFIER | c.936-804C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139336 | |||||||
| chr7:50139349 | CA | C | 11 | a0001c0001t0001g0118 a0001c0001t0001g0176 a0001c0001t0001g0180 others(8): Show |
13 | HG00642.hp1 HG00735.hp2 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.936-777delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50139349 | ||||||
| chr7:50139646 | C | A | 1 | a0002c0002t0001g0068 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.936-494C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139646 | |||||||
| chr7:50139864 | A | C | 1 | a0001c0001t0001g0162 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.936-276A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139864 | |||||||
| chr7:50140007 | C | CACA | 4 | a0002c0002t0001g0004 a0002c0002t0001g0063 a0002c0002t0001g0064 others(1): Show |
5 | HG00642.hp2 HG01175.hp2 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.936-131_936-129dup others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50140007 | ||||||
| chr7:50140013 | C | T | 112 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(109): Show |
117 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.936-127C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50140013 | |||||||
| chr7:50140213 | T | A | 1 | a0001c0001t0002g0148 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.977+32T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140213 | |||||||
| chr7:50140269 | T | G | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+88T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140269 | |||||||
| chr7:50140457 | C | T | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+276C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140457 | |||||||
| chr7:50140516 | T | C | 138 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
144 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(141): Show |
intron_variant | MODIFIER | c.977+335T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140516 | |||||||
| chr7:50140593 | G | A | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+412G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140593 | |||||||
| chr7:50140793 | C | G | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.978-488C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140793 | |||||||
| chr7:50140849 | C | T | 98 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(95): Show |
103 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.978-432C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140849 | |||||||
| chr7:50140896 | G | C | 3 | a0002c0002t0001g0059 a0002c0002t0001g0084 a0002c0002t0001g0085 |
3 | HG00323.hp1 HG01106.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.978-385G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140896 | |||||||
| chr7:50140988 | T | C | 1 | a0003c0003t0001g0279 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.978-293T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140988 | |||||||
| chr7:50141457 | A | G | 1 | a0001c0001t0001g0239 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1085+69A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141457 | |||||||
| chr7:50141603 | G | A | 68 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(65): Show |
72 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.1085+215G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141603 | |||||||
| chr7:50141653 | A | G | 248 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(245): Show |
259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1085+265A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141653 | |||||||
| chr7:50141727 | C | CT | 5 | a0003c0003t0001g0012 a0003c0003t0001g0024 a0003c0003t0001g0271 others(2): Show |
6 | HG03239.hp2 HG03654.hp1 HG03704.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+359dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT | 13 | a0002c0002t0001g0117 a0002c0005t0001g0251 a0002c0005t0001g0252 others(10): Show |
13 | HG01891.hp2 HG01993.hp2 HG02165.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+353_1085+359d others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(1): Show |
27 | a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0211 others(24): Show |
29 | HG01516.hp2 HG01891.hp1 HG02145.hp1 others(26): Show |
intron_variant | MODIFIER | c.1085+352_1085+359d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(2): Show |
90 | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0028 others(87): Show |
94 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.1085+351_1085+359d others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(3): Show |
84 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 others(81): Show |
89 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.1085+350_1085+359d others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(4): Show |
24 | a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0153 others(21): Show |
24 | HG00597.hp1 HG00609.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.1085+349_1085+359d others(13): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(5): Show |
4 | a0002c0002t0001g0095 a0002c0002t0001g0096 a0004c0004t0001g0032 others(1): Show |
4 | HG02257.hp1 HG02559.hp2 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.1085+348_1085+359d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(7): Show |
1 | a0002c0002t0001g0056 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1085+346_1085+359d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(8): Show |
1 | a0002c0002t0001g0077 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1085+345_1085+359d others(17): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141727 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+342_1085+359d others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | ||||||
| chr7:50141761 | G | A | 136 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(133): Show |
142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1085+373G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141761 | |||||||
| chr7:50141785 | G | A | 1 | a0001c0001t0001g0239 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1085+397G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141785 | |||||||
| chr7:50142005 | G | A | 5 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(2): Show |
5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+617G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142005 | |||||||
| chr7:50142149 | T | A | 1 | a0002c0002t0003g0241 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1085+761T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142149 | |||||||
| chr7:50142212 | A | G | 2 | a0002c0002t0001g0055 a0002c0002t0001g0057 |
2 | HG01934.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1085+824A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142212 | |||||||
| chr7:50142483 | T | C | 248 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(245): Show |
259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1085+1095T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142483 | |||||||
| chr7:50142528 | T | C | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+1140T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142528 | |||||||
| chr7:50142630 | C | T | 7 | a0001c0001t0001g0118 a0003c0003t0001g0016 a0003c0003t0001g0017 others(4): Show |
9 | HG00642.hp1 HG00735.hp2 HG01167.hp2 others(6): Show |
intron_variant | MODIFIER | c.1085+1242C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142630 | |||||||
| chr7:50142710 | G | C | 3 | a0002c0005t0001g0259 a0002c0005t0001g0260 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+1322G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142710 | |||||||
| chr7:50142878 | T | G | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+1490T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142878 | |||||||
| chr7:50142893 | T | C | 3 | a0001c0001t0001g0121 a0006c0008t0001g0185 a0006c0008t0001g0207 |
3 | NA18944.hp1 NA19087.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.1085+1505T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142893 | |||||||
| chr7:50142961 | C | A | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+1573C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142961 | |||||||
| chr7:50142964 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+1576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142964 | |||||||
| chr7:50142993 | C | A | 1 | a0001c0001t0001g0144 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1085+1605C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142993 | |||||||
| chr7:50143027 | A | T | 2 | a0002c0002t0001g0036 a0002c0002t0001g0052 |
2 | HG02683.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+1639A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143027 | |||||||
| chr7:50143158 | CAT | C | 4 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(1): Show |
4 | HG02630.hp1 HG02886.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1085+1771_1085+177 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143158 | |||||||
| chr7:50143159 | A | AT | 6 | a0002c0002t0001g0089 a0002c0005t0001g0254 a0003c0003t0001g0290 others(3): Show |
6 | HG01168.hp1 HG01175.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+1793dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | ||||||
| chr7:50143159 | AT | A | 84 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(81): Show |
91 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.1085+1793delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | ||||||
| chr7:50143159 | ATT | A | 13 | a0001c0001t0001g0010 a0001c0001t0001g0176 a0001c0001t0001g0179 others(10): Show |
14 | HG01993.hp2 HG02074.hp2 HG02165.hp2 others(11): Show |
intron_variant | MODIFIER | c.1085+1792_1085+179 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | ||||||
| chr7:50143159 | ATTT | A | 74 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(71): Show |
77 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.1085+1791_1085+179 others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | ||||||
| chr7:50143159 | ATTTT | A | 52 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0026 others(49): Show |
54 | HG00323.hp2 HG00639.hp2 HG00741.hp1 others(51): Show |
intron_variant | MODIFIER | c.1085+1790_1085+179 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | ||||||
| chr7:50143222 | T | C | 5 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(2): Show |
5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+1834T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143222 | |||||||
| chr7:50143473 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+2085C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143473 | |||||||
| chr7:50143563 | T | A | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+2175T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143563 | |||||||
| chr7:50143628 | T | A | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+2240T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143628 | |||||||
| chr7:50143649 | G | T | 117 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(114): Show |
123 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(120): Show |
intron_variant | MODIFIER | c.1085+2261G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143649 | |||||||
| chr7:50143860 | T | C | 5 | a0002c0002t0001g0003 a0002c0002t0001g0051 a0002c0002t0001g0070 others(2): Show |
6 | HG01175.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+2472T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143860 | |||||||
| chr7:50143880 | C | A | 1 | a0001c0001t0001g0193 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1085+2492C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143880 | |||||||
| chr7:50144319 | T | C | 1 | a0004c0004t0001g0067 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1085+2931T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144319 | |||||||
| chr7:50144448 | A | G | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+3060A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144448 | |||||||
| chr7:50144593 | G | A | 5 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(2): Show |
5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+3205G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144593 | |||||||
| chr7:50145008 | T | C | 1 | a0001c0001t0001g0030 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1085+3620T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145008 | |||||||
| chr7:50145079 | T | C | 1 | a0002c0002t0001g0090 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1085+3691T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145079 | |||||||
| chr7:50145135 | C | T | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+3747C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145135 | |||||||
| chr7:50145304 | T | A | 1 | a0001c0001t0001g0164 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1085+3916T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145304 | |||||||
| chr7:50145324 | T | C | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+3936T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145324 | |||||||
| chr7:50145355 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+3967G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145355 | |||||||
| chr7:50145570 | GTA | G | 134 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show |
140 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.1085+4194_1085+419 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145570 | ||||||
| chr7:50145572 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1085+4184A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145572 | |||||||
| chr7:50145582 | A | G | 1 | a0001c0001t0001g0143 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4194A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145582 | |||||||
| chr7:50145585 | T | C | 1 | a0001c0001t0001g0143 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4197T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145585 | |||||||
| chr7:50145587 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4199C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145587 | |||||||
| chr7:50145604 | G | GTGTA | 12 | a0002c0002t0001g0038 a0002c0002t0001g0055 a0002c0002t0001g0057 others(9): Show |
12 | HG01106.hp1 HG01256.hp1 HG01928.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4218_1085+422 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145604 | ||||||
| chr7:50145604 | G | GTGTATGT others(3): Show |
5 | a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0045 others(2): Show |
5 | HG03654.hp2 HG04204.hp2 NA18963.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145604 | ||||||
| chr7:50145606 | G | A | 12 | a0001c0001t0001g0109 a0002c0002t0001g0117 a0002c0005t0001g0250 others(9): Show |
12 | HG02257.hp1 HG02258.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4218G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145606 | |||||||
| chr7:50145606 | G | GTATGTAT others(5): Show |
1 | a0002c0002t0001g0047 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | ||||||
| chr7:50145606 | G | GTATGTAT others(7): Show |
1 | a0002c0002t0001g0102 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | ||||||
| chr7:50145606 | G | GTATGTAT others(9): Show |
1 | a0002c0002t0001g0044 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | ||||||
| chr7:50145606 | GTATATGT others(9): Show |
G | 2 | a0002c0002t0001g0052 a0002c0002t0001g0088 |
2 | HG02738.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+4224_1085+423 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | ||||||
| chr7:50145606 | GTATATGT others(29): Show |
G | 2 | a0002c0002t0001g0097 a0002c0002t0001g0223 |
2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4224_1085+425 others(40): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | ||||||
| chr7:50145608 | A | ATG | 12 | a0002c0002t0001g0003 a0002c0002t0001g0042 a0002c0002t0001g0051 others(9): Show |
13 | HG00423.hp1 HG01168.hp2 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | ||||||
| chr7:50145608 | A | ATGTATAT others(1): Show |
14 | a0002c0002t0001g0004 a0002c0002t0001g0025 a0002c0002t0001g0036 others(11): Show |
15 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | ||||||
| chr7:50145608 | A | G | 2 | a0002c0002t0001g0058 a0008c0014t0004g0209 |
2 | HG01993.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.1085+4220A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145608 | |||||||
| chr7:50145608 | ATATGTGT others(1): Show |
A | 3 | a0004c0004t0001g0034 a0004c0004t0001g0103 a0004c0004t0001g0228 |
3 | HG02258.hp2 HG02486.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.1085+4222_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | ||||||
| chr7:50145610 | A | G | 19 | a0001c0001t0001g0143 a0002c0002t0001g0006 a0002c0002t0001g0049 others(16): Show |
20 | HG00609.hp2 HG00741.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.1085+4222A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145610 | |||||||
| chr7:50145610 | ATG | A | 6 | a0001c0001t0001g0030 a0001c0001t0001g0141 a0001c0001t0001g0144 others(3): Show |
6 | HG01243.hp1 HG02280.hp1 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+4230_1085+423 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145610 | ||||||
| chr7:50145610 | ATGTG | A | 8 | a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0002g0126 others(5): Show |
9 | HG00735.hp1 HG01891.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.1085+4228_1085+423 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145610 | ||||||
| chr7:50145612 | G | A | 52 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(49): Show |
55 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.1085+4224G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145612 | |||||||
| chr7:50145612 | GTGTGTGT others(5): Show |
G | 3 | a0002c0005t0001g0259 a0002c0005t0001g0260 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4226_1085+423 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145612 | ||||||
| chr7:50145612 | GTGTGTGT others(13): Show |
G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4226_1085+424 others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145612 | ||||||
| chr7:50145614 | G | A | 79 | a0001c0001t0001g0143 a0002c0002t0001g0004 a0002c0002t0001g0006 others(76): Show |
82 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.1085+4226G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145614 | |||||||
| chr7:50145614 | G | GTA | 11 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 others(8): Show |
12 | HG00733.hp1 HG01255.hp1 HG01928.hp2 others(9): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATA | 19 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0119 others(16): Show |
21 | HG00099.hp2 HG00609.hp1 HG00738.hp2 others(18): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATA | 9 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0156 others(6): Show |
11 | HG01192.hp2 HG02165.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(1): Show |
12 | a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0001g0116 others(9): Show |
12 | HG01081.hp1 HG01099.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(3): Show |
10 | a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0133 others(7): Show |
10 | HG00280.hp2 HG00639.hp2 HG01123.hp1 others(7): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(5): Show |
2 | a0001c0001t0001g0106 a0001c0001t0001g0112 |
2 | HG00597.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(7): Show |
3 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0230 |
3 | HG02056.hp1 HG03688.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(11): Show |
1 | a0003c0003t0001g0265 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1085+4227_1085+422 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | G | GTATATAT others(15): Show |
1 | a0001c0001t0001g0201 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1085+4227_1085+422 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | GTGTGTAT others(1): Show |
G | 3 | a0001c0001t0001g0104 a0001c0001t0001g0199 a0001c0001t0004g0105 |
3 | HG03041.hp2 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+4228_1085+423 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | GTGTGTAT others(9): Show |
G | 2 | a0001c0001t0001g0189 a0001c0001t0001g0197 |
2 | HG02055.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | GTGTGTAT others(11): Show |
G | 6 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0167 others(3): Show |
6 | HG02015.hp2 HG03209.hp2 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | GTGTGTAT others(15): Show |
G | 7 | a0001c0001t0001g0009 a0001c0001t0001g0127 a0001c0001t0001g0153 others(4): Show |
8 | HG00741.hp1 HG01070.hp1 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145614 | GTGTGTAT others(17): Show |
G | 17 | a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0140 others(14): Show |
17 | HG00423.hp2 HG02074.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.1085+4228_1085+425 others(28): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | ||||||
| chr7:50145616 | G | A | 154 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 others(151): Show |
162 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.1085+4228G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145616 | |||||||
| chr7:50145616 | G | GTATATA | 8 | a0002c0002t0001g0006 a0002c0002t0001g0060 a0002c0002t0001g0063 others(5): Show |
9 | HG00609.hp2 HG01433.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+4229_1085+423 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | ||||||
| chr7:50145616 | G | GTATATAT others(3): Show |
1 | a0003c0006t0001g0210 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1085+4229_1085+423 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | ||||||
| chr7:50145616 | G | GTATATAT others(5): Show |
1 | a0001c0001t0001g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1085+4229_1085+423 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | ||||||
| chr7:50145616 | GTGTATAT others(9): Show |
G | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+4230_1085+424 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | ||||||
| chr7:50145618 | G | A | 160 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 others(157): Show |
169 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show |
intron_variant | MODIFIER | c.1085+4230G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145618 | |||||||
| chr7:50145618 | G | GTA | 12 | a0001c0001t0001g0114 a0003c0003t0001g0014 a0003c0003t0001g0015 others(9): Show |
15 | HG00140.hp2 HG01070.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.1085+4271_1085+427 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATA | 9 | a0001c0001t0001g0211 a0003c0003t0001g0018 a0003c0003t0001g0248 others(6): Show |
10 | HG00140.hp1 HG01074.hp1 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.1085+4269_1085+427 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATA | 7 | a0001c0001t0001g0217 a0002c0005t0001g0252 a0003c0003t0001g0021 others(4): Show |
7 | HG00639.hp1 HG02922.hp1 HG03540.hp1 others(4): Show |
intron_variant | MODIFIER | c.1085+4267_1085+427 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATAT others(1): Show |
6 | a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 others(3): Show |
6 | HG02148.hp2 HG02572.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4265_1085+427 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATAT others(3): Show |
1 | a0003c0003t0001g0001 | 3 | NA18947.hp1 NA18988.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1085+4263_1085+427 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATAT others(5): Show |
2 | a0001c0001t0001g0289 a0003c0003t0001g0023 |
2 | HG03130.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.1085+4261_1085+427 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATAT others(9): Show |
1 | a0001c0001t0001g0172 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.1085+4257_1085+427 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTATATAT others(11): Show |
1 | a0001c0001t0001g0215 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1085+4255_1085+427 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | G | GTGTATAT others(7): Show |
1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+4231_1085+423 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | GTA | G | 15 | a0001c0001t0001g0118 a0003c0003t0001g0013 a0003c0003t0001g0283 others(12): Show |
17 | HG00735.hp2 HG02723.hp1 HG03490.hp1 others(14): Show |
intron_variant | MODIFIER | c.1085+4271_1085+427 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | GTATA | G | 5 | a0003c0003t0001g0016 a0003c0003t0001g0246 a0003c0003t0001g0282 others(2): Show |
6 | HG00733.hp2 HG01168.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4269_1085+427 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | GTATATAT others(3): Show |
G | 2 | a0003c0003t0001g0072 a0003c0006t0001g0300 |
2 | HG01106.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1085+4263_1085+427 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145618 | GTATATAT others(7): Show |
G | 1 | a0003c0003t0001g0287 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1085+4259_1085+427 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | ||||||
| chr7:50145620 | A | ATG | 3 | a0004c0004t0001g0033 a0004c0004t0001g0086 a0004c0004t0001g0087 |
3 | HG02145.hp1 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1085+4233_1085+423 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145620 | ||||||
| chr7:50145622 | A | G | 9 | a0004c0004t0001g0011 a0004c0004t0001g0032 a0004c0004t0001g0081 others(6): Show |
10 | HG01891.hp1 HG02080.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1085+4234A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145622 | |||||||
| chr7:50145624 | A | G | 12 | a0004c0004t0001g0005 a0004c0004t0001g0034 a0004c0004t0001g0039 others(9): Show |
13 | HG02258.hp2 HG02486.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+4236A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145624 | |||||||
| chr7:50145626 | A | G | 5 | a0002c0002t0001g0052 a0002c0002t0001g0088 a0004c0004t0001g0011 others(2): Show |
6 | HG01891.hp1 HG02738.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+4238A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145626 | |||||||
| chr7:50145630 | A | G | 3 | a0002c0005t0001g0259 a0002c0005t0001g0260 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4242A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145630 | |||||||
| chr7:50145632 | A | G | 2 | a0002c0002t0001g0052 a0002c0002t0001g0088 |
2 | HG02738.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+4244A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145632 | |||||||
| chr7:50145634 | A | G | 3 | a0002c0005t0001g0259 a0002c0005t0001g0260 a0004c0004t0001g0238 |
3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4246A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145634 | |||||||
| chr7:50145638 | A | G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4250A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145638 | |||||||
| chr7:50145640 | A | G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4252A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145640 | |||||||
| chr7:50145642 | A | G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4254A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145642 | |||||||
| chr7:50145644 | A | G | 5 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4256A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145644 | |||||||
| chr7:50145646 | A | G | 2 | a0002c0002t0001g0097 a0002c0002t0001g0223 |
2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4258A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145646 | |||||||
| chr7:50145652 | A | G | 2 | a0002c0002t0001g0097 a0002c0002t0001g0223 |
2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4264A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145652 | |||||||
| chr7:50145837 | C | A | 3 | a0001c0001t0001g0144 a0001c0001t0001g0183 a0001c0001t0001g0184 |
3 | NA18946.hp2 NA18962.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.1085+4449C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145837 | |||||||
| chr7:50145895 | A | C | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1085+4507A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145895 | |||||||
| chr7:50146047 | C | T | 2 | a0001c0001t0001g0104 a0001c0001t0004g0105 |
2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+4659C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146047 | |||||||
| chr7:50146366 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1085+4978G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146366 | |||||||
| chr7:50146610 | T | C | 1 | a0003c0003t0001g0266 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1086-4840T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146610 | |||||||
| chr7:50146649 | A | G | 2 | a0001c0001t0001g0029 a0001c0001t0001g0187 |
2 | HG00609.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1086-4801A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146649 | |||||||
| chr7:50146746 | T | C | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-4704T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146746 | |||||||
| chr7:50146782 | G | A | 39 | a0002c0002t0001g0117 a0002c0005t0001g0250 a0002c0005t0001g0251 others(36): Show |
41 | HG01891.hp1 HG01891.hp2 HG02080.hp1 others(38): Show |
intron_variant | MODIFIER | c.1086-4668G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146782 | |||||||
| chr7:50146795 | T | C | 1 | a0003c0003t0001g0273 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1086-4655T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146795 | |||||||
| chr7:50146903 | C | A | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1086-4547C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146903 | |||||||
| chr7:50146980 | C | T | 1 | a0004c0004t0001g0034 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1086-4470C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146980 | |||||||
| chr7:50147006 | G | T | 1 | a0001c0001t0001g0239 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1086-4444G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147006 | |||||||
| chr7:50147007 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1086-4443G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147007 | |||||||
| chr7:50147036 | T | G | 111 | a0001c0001t0001g0236 a0002c0002t0001g0003 a0002c0002t0001g0004 others(108): Show |
116 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.1086-4414T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147036 | |||||||
| chr7:50147058 | T | A | 21 | a0001c0001t0001g0236 a0004c0004t0001g0005 a0004c0004t0001g0011 others(18): Show |
23 | HG01891.hp1 HG02080.hp1 HG02135.hp1 others(20): Show |
intron_variant | MODIFIER | c.1086-4392T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147058 | |||||||
| chr7:50147416 | C | T | 135 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(132): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.1086-4034C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147416 | |||||||
| chr7:50147605 | A | C | 1 | a0001c0001t0001g0229 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1086-3845A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147605 | |||||||
| chr7:50147697 | C | T | 3 | a0002c0005t0001g0258 a0002c0005t0001g0261 a0002c0005t0001g0262 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1086-3753C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147697 | |||||||
| chr7:50147821 | T | A | 110 | a0001c0001t0001g0236 a0002c0002t0001g0003 a0002c0002t0001g0004 others(107): Show |
115 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.1086-3629T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147821 | |||||||
| chr7:50147908 | G | A | 64 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(61): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-3542G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147908 | |||||||
| chr7:50147916 | G | A | 1 | a0002c0002t0001g0073 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1086-3534G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147916 | |||||||
| chr7:50147924 | A | G | 1 | a0001c0001t0001g0176 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1086-3526A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147924 | |||||||
| chr7:50148219 | A | G | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-3231A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148219 | |||||||
| chr7:50148270 | A | C | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-3180A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148270 | |||||||
| chr7:50148275 | C | T | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-3175C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148275 | |||||||
| chr7:50148380 | G | A | 1 | a0001c0001t0001g0205 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1086-3070G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148380 | |||||||
| chr7:50148600 | C | T | 2 | a0001c0001t0001g0112 a0001c0001t0001g0226 |
2 | HG01884.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1086-2850C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148600 | |||||||
| chr7:50148687 | A | G | 136 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(133): Show |
142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1086-2763A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148687 | |||||||
| chr7:50148789 | G | A | 3 | a0004c0004t0001g0033 a0004c0004t0001g0086 a0004c0004t0001g0087 |
3 | HG02145.hp1 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1086-2661G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148789 | |||||||
| chr7:50148821 | G | A | 1 | a0003c0003t0001g0267 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1086-2629G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148821 | |||||||
| chr7:50148829 | T | C | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-2621T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148829 | |||||||
| chr7:50148912 | C | T | 1 | a0001c0001t0001g0120 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1086-2538C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148912 | |||||||
| chr7:50148931 | G | A | 18 | a0001c0001t0001g0236 a0004c0004t0001g0005 a0004c0004t0001g0011 others(15): Show |
20 | HG01891.hp1 HG02145.hp1 HG02451.hp2 others(17): Show |
intron_variant | MODIFIER | c.1086-2519G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148931 | |||||||
| chr7:50149050 | C | G | 64 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(61): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2400C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149050 | |||||||
| chr7:50149143 | TA | T | 70 | a0001c0001t0001g0030 a0001c0001t0001g0104 a0001c0001t0001g0199 others(67): Show |
72 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.1086-2293delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149143 | ||||||
| chr7:50149143 | TAA | T | 170 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(167): Show |
178 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.1086-2294_1086-229 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149143 | ||||||
| chr7:50149177 | C | T | 1 | a0001c0001t0001g0239 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1086-2273C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149177 | |||||||
| chr7:50149238 | C | T | 64 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(61): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2212C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149238 | |||||||
| chr7:50149280 | TC | T | 64 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(61): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2166delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149280 | ||||||
| chr7:50149338 | C | A | 135 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(132): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.1086-2112C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149338 | |||||||
| chr7:50149408 | C | T | 1 | a0003c0003t0001g0293 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1086-2042C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149408 | |||||||
| chr7:50149559 | C | T | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1086-1891C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149559 | |||||||
| chr7:50149587 | G | A | 1 | a0001c0001t0001g0159 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1086-1863G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149587 | |||||||
| chr7:50149591 | C | T | 6 | a0001c0001t0001g0104 a0001c0001t0001g0211 a0001c0001t0001g0212 others(3): Show |
6 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.1086-1859C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149591 | |||||||
| chr7:50149862 | G | A | 1 | a0003c0003t0001g0283 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1086-1588G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149862 | |||||||
| chr7:50149960 | A | G | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1086-1490A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149960 | |||||||
| chr7:50149964 | C | T | 1 | a0004c0004t0001g0238 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1086-1486C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149964 | |||||||
| chr7:50150001 | A | T | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-1449A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150001 | |||||||
| chr7:50150153 | G | T | 247 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.1086-1297G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150153 | |||||||
| chr7:50150167 | G | A | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1086-1283G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150167 | |||||||
| chr7:50150176 | G | T | 4 | a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0001g0165 others(1): Show |
5 | HG02257.hp2 HG02258.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1086-1274G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150176 | |||||||
| chr7:50150515 | C | A | 1 | a0001c0001t0001g0107 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1086-935C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150515 | |||||||
| chr7:50150743 | C | T | 1 | a0004c0004t0001g0087 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1086-707C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150743 | |||||||
| chr7:50151620 | G | T | 130 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(127): Show |
136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+63G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151620 | |||||||
| chr7:50151692 | G | A | 1 | a0004c0004t0001g0082 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1193+135G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151692 | |||||||
| chr7:50151698 | GA | G | 130 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(127): Show |
136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+148delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50151698 | ||||||
| chr7:50151757 | T | C | 120 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(117): Show |
126 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.1193+200T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151757 | |||||||
| chr7:50151817 | C | T | 130 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(127): Show |
136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+260C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151817 | |||||||
| chr7:50151924 | T | C | 240 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(237): Show |
251 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.1193+367T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151924 | |||||||
| chr7:50151941 | G | T | 1 | a0003c0003t0001g0273 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1193+384G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151941 | |||||||
| chr7:50152035 | C | A | 1 | a0003c0006t0001g0130 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1193+478C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152035 | |||||||
| chr7:50152085 | T | C | 135 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(132): Show |
142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1193+528T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152085 | |||||||
| chr7:50152100 | C | T | 8 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 others(5): Show |
8 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1193+543C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152100 | |||||||
| chr7:50152269 | C | T | 5 | a0001c0001t0001g0104 a0001c0001t0001g0211 a0001c0001t0001g0212 others(2): Show |
5 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+712C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152269 | |||||||
| chr7:50152471 | A | G | 3 | a0002c0002t0001g0004 a0002c0002t0001g0063 a0002c0002t0001g0065 |
4 | HG00642.hp2 HG01175.hp2 HG01243.hp2 others(1): Show |
intron_variant | MODIFIER | c.1193+914A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152471 | |||||||
| chr7:50152591 | C | G | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+1034C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152591 | |||||||
| chr7:50152627 | C | T | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+1070C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152627 | |||||||
| chr7:50152664 | T | TATTTATT others(6): Show |
1 | a0001c0001t0001g0172 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.1193+1107_1193+110 others(17): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152664 | |||||||
| chr7:50152664 | T | TTTTA | 99 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 others(96): Show |
103 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.1193+1148_1193+115 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | T | TTTTATTT others(1): Show |
57 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0031 others(54): Show |
62 | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.1193+1144_1193+115 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | T | TTTTATTT others(5): Show |
10 | a0001c0001t0001g0028 a0001c0001t0001g0116 a0001c0001t0001g0137 others(7): Show |
10 | HG01081.hp2 HG01123.hp2 HG01993.hp2 others(7): Show |
intron_variant | MODIFIER | c.1193+1140_1193+115 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | T | TTTTATTT others(9): Show |
1 | a0001c0001t0001g0193 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1193+1136_1193+115 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | TTTTA | T | 9 | a0001c0001t0001g0008 a0001c0001t0001g0107 a0001c0001t0001g0110 others(6): Show |
10 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1193+1148_1193+115 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | TTTTATTT others(1): Show |
T | 6 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1193+1144_1193+115 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152664 | TTTTATTT others(9): Show |
T | 8 | a0002c0002t0001g0117 a0002c0005t0001g0303 a0002c0005t0001g0307 others(5): Show |
8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1193+1136_1193+115 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | ||||||
| chr7:50152722 | T | C | 1 | a0002c0002t0001g0061 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1193+1165T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152722 | |||||||
| chr7:50152878 | G | A | 1 | a0001c0001t0002g0149 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1193+1321G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152878 | |||||||
| chr7:50152936 | C | G | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+1379C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152936 | |||||||
| chr7:50152977 | G | T | 1 | a0003c0003t0001g0015 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1193+1420G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152977 | |||||||
| chr7:50152996 | A | T | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+1439A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152996 | |||||||
| chr7:50153024 | C | T | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+1467C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153024 | |||||||
| chr7:50153096 | C | T | 14 | a0001c0001t0001g0236 a0004c0004t0001g0005 a0004c0004t0001g0033 others(11): Show |
15 | HG02145.hp1 HG02451.hp2 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.1193+1539C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153096 | |||||||
| chr7:50153417 | G | A | 3 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0244 |
3 | HG02630.hp1 HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1193+1860G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153417 | |||||||
| chr7:50153452 | G | A | 2 | a0001c0001t0001g0132 a0001c0001t0001g0133 |
2 | HG01099.hp2 HG01123.hp1 |
intron_variant | MODIFIER | c.1193+1895G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153452 | |||||||
| chr7:50153506 | T | G | 240 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(237): Show |
251 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.1193+1949T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153506 | |||||||
| chr7:50153609 | G | C | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+2052G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153609 | |||||||
| chr7:50153610 | G | A | 1 | a0002c0002t0001g0046 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1193+2053G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153610 | |||||||
| chr7:50153647 | A | C | 240 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(237): Show |
251 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.1193+2090A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153647 | |||||||
| chr7:50153841 | G | T | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1193+2284G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153841 | |||||||
| chr7:50153903 | C | G | 134 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.1193+2346C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153903 | |||||||
| chr7:50154094 | G | T | 1 | a0001c0001t0001g0178 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1193+2537G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154094 | |||||||
| chr7:50154100 | A | G | 4 | a0004c0004t0001g0032 a0004c0004t0001g0034 a0004c0004t0001g0103 others(1): Show |
4 | HG02257.hp1 HG02258.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1193+2543A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154100 | |||||||
| chr7:50154156 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1193+2599C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154156 | |||||||
| chr7:50154205 | G | A | 4 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(1): Show |
4 | HG02015.hp1 NA18944.hp2 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1193+2648G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154205 | |||||||
| chr7:50154211 | G | A | 5 | a0001c0001t0001g0104 a0001c0001t0001g0211 a0001c0001t0001g0212 others(2): Show |
5 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+2654G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154211 | |||||||
| chr7:50154388 | C | T | 1 | a0001c0001t0001g0199 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1193+2831C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154388 | |||||||
| chr7:50154406 | C | T | 1 | a0001c0001t0001g0177 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1193+2849C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154406 | |||||||
| chr7:50154445 | G | A | 129 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
135 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.1193+2888G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154445 | |||||||
| chr7:50154467 | G | T | 134 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show |
141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.1193+2910G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154467 | |||||||
| chr7:50154495 | G | C | 4 | a0004c0004t0001g0011 a0004c0004t0001g0220 a0004c0004t0001g0222 others(1): Show |
5 | HG01891.hp1 HG03225.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+2938G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154495 | |||||||
| chr7:50154507 | T | C | 1 | a0003c0003t0001g0280 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1193+2950T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154507 | |||||||
| chr7:50154651 | G | T | 1 | a0002c0002t0001g0092 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1193+3094G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154651 | |||||||
| chr7:50154725 | T | C | 5 | a0004c0004t0001g0011 a0004c0004t0001g0220 a0004c0004t0001g0222 others(2): Show |
6 | HG01891.hp1 HG01993.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1193+3168T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154725 | |||||||
| chr7:50154807 | A | G | 1 | a0001c0001t0001g0030 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1193+3250A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154807 | |||||||
| chr7:50154819 | C | T | 3 | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 |
3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1193+3262C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154819 | |||||||
| chr7:50154931 | C | T | 9 | a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 others(6): Show |
9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1193+3374C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154931 | |||||||
| chr7:50155168 | C | T | 1 | a0003c0003t0001g0286 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1193+3611C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155168 | |||||||
| chr7:50155169 | G | A | 1 | a0004c0004t0001g0039 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1193+3612G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155169 | |||||||
| chr7:50155222 | T | C | 1 | a0002c0002t0001g0073 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1193+3665T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155222 | |||||||
| chr7:50155282 | C | T | 100 | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0104 others(97): Show |
104 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1193+3725C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155282 | |||||||
| chr7:50155324 | T | C | 65 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(62): Show |
68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.1194-3722T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155324 | |||||||
| chr7:50155339 | G | A | 1 | a0004c0004t0001g0222 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1194-3707G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155339 | |||||||
| chr7:50155402 | C | T | 100 | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0104 others(97): Show |
104 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1194-3644C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155402 | |||||||
| chr7:50155425 | A | G | 1 | a0001c0001t0001g0035 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1194-3621A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155425 | |||||||
| chr7:50155450 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1194-3596G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155450 | |||||||
| chr7:50155477 | A | G | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1194-3569A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155477 | |||||||
| chr7:50155628 | T | C | 1 | a0001c0001t0001g0206 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1194-3418T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155628 | |||||||
| chr7:50155677 | T | C | 5 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1194-3369T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155677 | |||||||
| chr7:50155747 | G | A | 69 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0002g0002 others(66): Show |
73 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(70): Show |
intron_variant | MODIFIER | c.1194-3299G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155747 | |||||||
| chr7:50155770 | TG | T | 23 | a0001c0001t0001g0227 a0001c0001t0001g0236 a0002c0002t0001g0058 others(20): Show |
24 | HG02080.hp1 HG02135.hp1 HG02145.hp1 others(21): Show |
intron_variant | MODIFIER | c.1194-3271delG | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155770 | ||||||
| chr7:50155772 | G | A | 2 | a0003c0003t0001g0271 a0003c0003t0001g0277 |
2 | HG03239.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.1194-3274G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155772 | |||||||
| chr7:50155815 | G | GGCTGTCA others(37): Show |
285 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(282): Show |
305 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(302): Show |
intron_variant | MODIFIER | c.1194-3227_1194-318 others(48): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | ||||||
| chr7:50155815 | G | GGCTGTCA others(81): Show |
10 | a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0136 others(7): Show |
11 | HG01099.hp2 HG01928.hp2 HG02698.hp1 others(8): Show |
intron_variant | MODIFIER | c.1194-3184_1194-318 others(92): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | ||||||
| chr7:50155815 | G | GGCTGTCA others(125): Show |
4 | a0001c0001t0001g0112 a0001c0001t0001g0120 a0002c0002t0001g0061 others(1): Show |
4 | HG00099.hp1 HG01496.hp1 HG02056.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-3184_1194-318 others(136): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | ||||||
| chr7:50155832 | C | CTCACTAT others(37): Show |
1 | a0004c0004t0001g0067 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1194-3184_1194-318 others(48): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155832 | ||||||
| chr7:50155863 | C | G | 287 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(284): Show |
307 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
intron_variant | MODIFIER | c.1194-3183C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155863 | |||||||
| chr7:50156090 | C | T | 1 | a0004c0004t0001g0238 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1194-2956C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156090 | |||||||
| chr7:50156299 | AT | A | 10 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2746delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156299 | |||||||
| chr7:50156303 | GT | G | 10 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2742delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156303 | |||||||
| chr7:50156305 | G | A | 10 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2741G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156305 | |||||||
| chr7:50156307 | C | A | 10 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2739C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156307 | |||||||
| chr7:50156308 | A | G | 10 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2738A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156308 | |||||||
| chr7:50156388 | A | G | 284 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(281): Show |
304 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
intron_variant | MODIFIER | c.1194-2658A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156388 | |||||||
| chr7:50156429 | C | T | 7 | a0001c0001t0001g0206 a0002c0002t0003g0243 a0004c0004t0001g0032 others(4): Show |
7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2617C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156429 | |||||||
| chr7:50156514 | C | T | 4 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0244 others(1): Show |
4 | HG02630.hp1 HG02886.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-2532C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156514 | |||||||
| chr7:50156541 | A | C | 7 | a0001c0001t0001g0206 a0002c0002t0003g0243 a0004c0004t0001g0032 others(4): Show |
7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2505A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156541 | |||||||
| chr7:50156541 | A | T | 294 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(291): Show |
314 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
intron_variant | MODIFIER | c.1194-2505A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156541 | |||||||
| chr7:50156640 | T | C | 7 | a0001c0001t0001g0206 a0002c0002t0003g0243 a0004c0004t0001g0032 others(4): Show |
7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2406T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156640 | |||||||
| chr7:50156704 | T | C | 1 | a0001c0001t0001g0162 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1194-2342T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156704 | |||||||
| chr7:50156890 | T | A | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1194-2156T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156890 | |||||||
| chr7:50157316 | T | G | 7 | a0001c0001t0001g0206 a0002c0002t0003g0243 a0004c0004t0001g0032 others(4): Show |
7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-1730T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157316 | |||||||
| chr7:50157743 | T | C | 1 | a0010c0013t0001g0108 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1194-1303T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157743 | |||||||
| chr7:50157796 | C | T | 301 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(298): Show |
321 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
intron_variant | MODIFIER | c.1194-1250C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157796 | |||||||
| chr7:50157810 | T | C | 224 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 others(221): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.1194-1236T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157810 | |||||||
| chr7:50157899 | T | A | 1 | a0006c0008t0001g0207 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1194-1147T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157899 | |||||||
| chr7:50157899 | T | TA | 92 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(89): Show |
94 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.1194-1147_1194-114 others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157899 | |||||||
| chr7:50157900 | T | A | 93 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(90): Show |
95 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1194-1146T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157900 | |||||||
| chr7:50157900 | T | TA | 113 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0035 others(110): Show |
120 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(117): Show |
intron_variant | MODIFIER | c.1194-1138dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50157900 | ||||||
| chr7:50157900 | T | TTA | 17 | a0001c0001t0001g0119 a0001c0001t0001g0206 a0001c0001t0004g0105 others(14): Show |
17 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(14): Show |
intron_variant | MODIFIER | c.1194-1146_1194-114 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157900 | |||||||
| chr7:50157978 | T | G | 1 | a0001c0001t0001g0132 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1194-1068T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157978 | |||||||
| chr7:50158025 | C | G | 4 | a0004c0004t0001g0033 a0004c0004t0001g0086 a0004c0004t0001g0087 others(1): Show |
4 | HG02145.hp1 HG02451.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1194-1021C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158025 | |||||||
| chr7:50158039 | A | G | 4 | a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0244 others(1): Show |
4 | HG02630.hp1 HG02886.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-1007A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158039 | |||||||
| chr7:50158139 | C | A | 12 | a0001c0001t0001g0119 a0001c0001t0004g0105 a0002c0002t0001g0117 others(9): Show |
12 | HG01993.hp2 HG02080.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.1194-907C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158139 | |||||||
| chr7:50158144 | GGGTGAGG others(36): Show |
G | 1 | a0003c0003t0001g0291 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1194-884_1194-842d others(45): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50158144 | ||||||
| chr7:50158161 | C | T | 8 | a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0018 others(5): Show |
11 | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(8): Show |
intron_variant | MODIFIER | c.1194-885C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158161 | |||||||
| chr7:50158163 | C | A | 1 | a0001c0001t0001g0026 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1194-883C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158163 | |||||||
| chr7:50158182 | C | A | 1 | a0001c0001t0001g0143 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1194-864C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158182 | |||||||
| chr7:50158310 | C | T | 93 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(90): Show |
95 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1194-736C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158310 | |||||||
| chr7:50158359 | A | G | 301 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(298): Show |
321 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
intron_variant | MODIFIER | c.1194-687A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158359 | |||||||
| chr7:50158361 | G | A | 1 | a0008c0014t0004g0209 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1194-685G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158361 | |||||||
| chr7:50158402 | G | C | 279 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(276): Show |
299 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
intron_variant | MODIFIER | c.1194-644G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158402 | |||||||
| chr7:50158458 | G | C | 279 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(276): Show |
299 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
intron_variant | MODIFIER | c.1194-588G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158458 | |||||||
| chr7:50158762 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1194-284C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158762 | |||||||
| chr7:50158797 | C | T | 90 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(87): Show |
92 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.1194-249C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158797 | |||||||
| chr7:50158969 | A | T | 1 | a0002c0002t0001g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1194-77A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158969 | |||||||
| chr7:50159030 | T | C | 301 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(298): Show |
321 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
intron_variant | MODIFIER | c.1194-16T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50159030 |