| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | 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 | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SOX6_chr11_15961449_16361546 | 16349739 | GGAAGGAA others(17): Show |
G | intron_variant | MODIFIER | NA18947.hp1 NA19009.hp1 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0132a0001c0002t0003g0133a0001c0002t0003g0134 | 3 | 218 | 0.0138 | -24 | c.-5+ others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
| SOX8_chr16_976770_991979 | 981331 | AGAGAGAG others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 434 | 0.0023 | -24 | c.-59 others(33): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 438 | chr16 | TogoVar | ||||||
| SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0038a0001c0001t0008g0039a0001c0001t0008g0040others(3): Show | 6 | 290 | 0.0207 | -24 | c.205 others(41): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SP100_chr2_230411201_230550606 | 230539685 | ATACACTG others(17): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0119a0002c0002t0011g0144a0002c0002t0011g0156others(3): Show | 6 | 290 | 0.0207 | -24 | c.221 others(41): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SP110_chr2_230160186_230224984 | 230166514 | TCCTCTGC others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0002c0002others(30): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(89): Show | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0021others(208): Show | 227 | 428 | 0.5304 | -24 | c.*25 others(35): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 19/19 | 2586 | chr2 | TogoVar | |||||
| SP140_chr2_230220736_230318215 | 230288455 | ATCTTTCT others(17): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 370 | 0.0054 | -24 | c.172 others(41): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SP4_chr7_21423083_21519822 | 21510360 | TTAGTTAA others(17): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0131 | 1 | 426 | 0.0024 | -24 | c.210 others(41): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 416 | 0.0024 | -24 | c.-40 others(35): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | ||||||
| SP9_chr2_174329954_174343500 | 174332992 | TTCCTTCT others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 404 | 0.0025 | -24 | c.-21 others(35): Show |
SP9 | ENSG00000217236.2 | transcript | ENST00000394967.3 | protein_coding | 1961 | chr2 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35913811 | GTGTAGTG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -24 | c.*31 others(35): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2126 | chr9 | TogoVar | ||||||
| SPACA3_chr17_32986847_33002877 | 32991607 | TGTGTGTG others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01192.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(82): Show | 103 | 470 | 0.2192 | -24 | c.-33 others(33): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 239 | chr17 | TogoVar | ||||||
| SPACA4_chr19_48601742_48612714 | 48602704 | AATATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -24 | c.-42 others(35): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 213468463 | CTATGTAT others(17): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 86 | 0.0116 | -24 | c.943 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 213728876 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0070a0002c0002t0001g0049others(11): Show | 14 | 86 | 0.1628 | -24 | c.107 others(47): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 213804682 | CAACTAAC others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 86 | 0.0116 | -24 | c.107 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 213913571 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 86 | 0.0116 | -24 | c.121 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 213932147 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0001a0005c0005t0001 | a0001c0001t0002g0067a0002c0002t0001g0010a0005c0005t0001g0017others(1): Show | 4 | 86 | 0.0465 | -24 | c.140 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 214177967 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG01361.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0065others(10): Show | 13 | 86 | 0.1512 | -24 | c.172 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 214261107 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG01361.hp1 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0014others(42): Show | 45 | 86 | 0.5233 | -24 | c.172 others(47): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 214298141 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 NA18522.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0002a0005c0005t0001 | a0001c0001t0002g0009a0002c0002t0002g0073a0005c0005t0001g0081 | 3 | 86 | 0.0349 | -24 | c.172 others(47): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAG17_chr1_117948590_118190228 | 118079864 | GTGTTAAA others(17): Show |
G | intron_variant | MODIFIER | HG03654.hp2 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013 | 2 | 266 | 0.0075 | -24 | c.220 others(43): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 15/48 | chr1 | TogoVar | ||||||
| SPAG17_chr1_117948590_118190228 | 118148484 | CGCTGATT others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(51): Show |
a0002a0007a0015others(1): Show | a0002c0002a0002c0008a0007c0017others(3): Show | a0002c0002t0001a0002c0008t0001a0007c0017t0001others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0010a0002c0002t0001g0011others(50): Show | 54 | 266 | 0.2030 | -24 | c.315 others(41): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 3/48 | chr1 | TogoVar | ||||||
| SPAG17_chr1_117948590_118190228 | 118148518 | TCCATTTT others(17): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0070 | 1 | 266 | 0.0038 | -24 | c.315 others(41): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 3/48 | chr1 | TogoVar | ||||||
| SPAG1_chr8_100153587_100246904 | 100170800 | CATTTATT others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0251 | 1 | 366 | 0.0027 | -24 | c.300 others(41): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SPAG1_chr8_100153587_100246904 | 100206648 | CAAGATAT others(17): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0290 | 1 | 366 | 0.0027 | -24 | c.109 others(43): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SPAG1_chr8_100153587_100246904 | 100214988 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02698.hp1 NA19087.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0260a0002c0001t0001g0317a0002c0001t0001g0355 | 3 | 366 | 0.0082 | -24 | c.153 others(43): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SPAG4_chr20_35610829_35626094 | 35615424 | AAAAGAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0006 | 3 | 320 | 0.0094 | -24 | c.-57 others(33): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51053855 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0097 | 1 | 292 | 0.0034 | -24 | c.495 others(41): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51076997 | GCTATCTA others(17): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 292 | 0.0034 | -24 | c.424 others(41): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51077005 | GCTAGCTA others(17): Show |
G | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0249 | 1 | 292 | 0.0034 | -24 | c.424 others(41): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51077009 | GCTAGCTA others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02896.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0074a0001c0001t0001g0148others(6): Show | 9 | 292 | 0.0308 | -24 | c.424 others(41): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51077069 | GCTATCTA others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0145 | 1 | 292 | 0.0034 | -24 | c.424 others(41): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
| SPANXB1_chrX_140997594_141008706 | 141008327 | AAGGAAGG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0015 | 1 | 301 | 0.0033 | -24 | c.*46 others(35): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 4622 | chrX | TogoVar | ||||||
| SPANXC_chrX_141236463_141247517 | 141236812 | CCCTCCCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp1 HG01981.hp1 HG02451.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0012c0013t0002 | a0001c0001t0001g0003a0012c0013t0002g0046a0012c0013t0002g0047 | 4 | 344 | 0.0116 | -24 | c.*46 others(35): Show |
SPANXC | ENSG00000198573.7 | transcript | ENST00000358993.3 | protein_coding | 4650 | chrX | TogoVar | ||||||
| SPAST_chr2_32058556_32162637 | 32105738 | TTTGCCTG others(17): Show |
T | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 342 | 0.0029 | -24 | c.682 others(41): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
| SPATA13_chr13_24155720_24312069 | 24201031 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(212): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(127): Show | a0001c0001t0002g0082a0001c0001t0002g0094a0001c0001t0002g0119others(212): Show | 215 | 356 | 0.6039 | -24 | c.-11 others(45): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24202070 | CTAAATAA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(247): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(158): Show | a0001c0001t0002g0119a0001c0001t0002g0162a0001c0001t0002g0186others(247): Show | 250 | 356 | 0.7023 | -24 | c.-11 others(45): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24278873 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0013 | a0001c0013t0128 | a0001c0013t0128g0120 | 1 | 356 | 0.0028 | -24 | c.216 others(43): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPATA16_chr3_172884357_173146235 | 173028005 | CCCTCCCT others(17): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03209.hp2 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0143a0004c0006t0001g0098 | 2 | 200 | 0.0100 | -24 | c.759 others(41): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
| SPATA16_chr3_172884357_173146235 | 173028013 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 200 | 0.0050 | -24 | c.759 others(41): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
| SPATA16_chr3_172884357_173146235 | 173028054 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG02735.hp2 NA20752.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0038a0001c0004t0001g0048 | 2 | 200 | 0.0100 | -24 | c.759 others(41): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
| SPATA16_chr3_172884357_173146235 | 173088008 | GTCTTTCT others(17): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01934.hp2 HG01975.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0008 | a0001c0001t0001a0003c0003t0001a0004c0008t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0003c0003t0001g0076others(5): Show | 8 | 200 | 0.0400 | -24 | c.612 others(43): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| SPATA21_chr1_16393643_16442424 | 16394679 | ACATCTAG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 NA20905.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0089a0005c0005t0001g0107 | 2 | 352 | 0.0057 | -24 | c.*40 others(35): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3963 | chr1 | TogoVar | ||||||
| SPATA22_chr17_3435019_3476819 | 3463939 | CCCTCTCC others(17): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02735.hp1 HG04204.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0263a0002c0006t0001g0246a0002c0006t0001g0264 | 3 | 420 | 0.0071 | -24 | c.173 others(41): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| SPATA2_chr20_49898391_49920529 | 49903898 | GATAGATA others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0026a0001c0006t0026 | a0001c0001t0026g0201a0001c0006t0026g0042 | 3 | 426 | 0.0070 | -24 | c.*16 others(35): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1697 | chr20 | TogoVar | |||||
| SPATA2_chr20_49898391_49920529 | 49903902 | GATATATA others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01993.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0028a0001c0002t0028a0001c0004t0088 | a0001c0001t0028g0041a0001c0002t0028g0107a0001c0004t0088g0115 | 4 | 426 | 0.0094 | -24 | c.*16 others(35): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1693 | chr20 | TogoVar | |||||
| SPATA31A6_chr9_42178659_42194887 | 42183500 | CCCTCCCC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 182 | 0.0055 | -24 | c.-18 others(33): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 158 | chr9 | TogoVar | ||||||
| SPATA31C2_chr9_88124305_88143475 | 88134448 | ACAGAGAC others(17): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01928.hp1 others(17): Show |
a0001a0007a0021others(3): Show | a0001c0001a0007c0009a0007c0014others(4): Show | a0001c0001t0001a0007c0009t0003a0007c0009t0006others(5): Show | a0001c0001t0001g0139a0007c0009t0003g0002a0007c0009t0003g0079others(10): Show | 20 | 446 | 0.0448 | -24 | c.190 others(39): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
| SPATA31C2_chr9_88124305_88143475 | 88137925 | TCCCATCT others(17): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0000 | a0000c0051 | a0000c0051t0001 | a0000c0051t0001g0245 | 1 | 446 | 0.0022 | -24 | c.189 others(39): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
| SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA18941.hp2 |
a0001a0025 | a0001c0001a0025c0028 | a0001c0001t0001a0025c0028t0026 | a0001c0001t0001g0068a0025c0028t0026g0052 | 2 | 380 | 0.0053 | -24 | c.293 others(37): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |