view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA13_chr13_24155720_24312069 | 24276635 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(165): Show | a0001c0001t0002g0082 a0001c0001t0002g0094 a0001c0001t0002g0119 others(257): Show |
260 | 356 | 0.7303 | 8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278868 | T | TTTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01243.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0029a0002c0008t0099a0002c0008t0102 | a0001c0001t0029g0028 a0002c0008t0099g0340 a0002c0008t0102g0270 |
3 | 356 | 0.0084 | 8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278873 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01071.hp2 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0004a0001c0001t0034a0001c0001t0104others(24): Show | a0001c0001t0004g0080 a0001c0001t0034g0048 a0001c0001t0104g0030 others(29): Show |
32 | 356 | 0.0899 | 8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278970 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(56): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0164 a0001c0001t0003g0213 a0001c0001t0003g0274 others(56): Show |
59 | 356 | 0.1657 | 8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172949231 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | NA18906.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0132 a0002c0002t0001g0099 |
2 | 200 | 0.0100 | 8 | c.108 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 6/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172959787 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02056.hp2 HG02145.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0171 a0002c0002t0001g0011 others(3): Show |
6 | 200 | 0.0300 | 8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172960875 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(79): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0015others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(13): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(79): Show |
82 | 200 | 0.4100 | 8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961065 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | NA19081.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0096 |
2 | 200 | 0.0100 | 8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961065 | T | TCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0200 a0002c0002t0001g0011 a0002c0002t0001g0122 |
3 | 200 | 0.0150 | 8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961069 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02129.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0017others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0137 others(11): Show |
14 | 200 | 0.0700 | 8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172999395 | A | ATTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01175.hp1 HG01934.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 others(16): Show |
19 | 200 | 0.0950 | 8 | c.848 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173010435 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02572.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0183 others(14): Show |
17 | 200 | 0.0850 | 8 | c.848 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173021722 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02559.hp1 HG02970.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0002c0002others(3): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0137 others(10): Show |
13 | 200 | 0.0650 | 8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173023137 | A | ATGTGTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0087 a0001c0004t0001g0073 a0002c0002t0001g0088 others(7): Show |
10 | 200 | 0.0500 | 8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173027974 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02074.hp2 HG02145.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0017a0002c0002others(4): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0096 others(11): Show |
14 | 200 | 0.0700 | 8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028011 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0050 a0001c0001t0004g0200 |
2 | 200 | 0.0100 | 8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173064320 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01081.hp1 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0109 a0001c0001t0001g0134 others(39): Show |
42 | 200 | 0.2100 | 8 | c.613 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088007 | C | CATCTTTC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG03139.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0144 others(1): Show |
4 | 200 | 0.0200 | 8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088008 | G | GTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02056.hp2 HG02148.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0069 others(6): Show |
9 | 200 | 0.0450 | 8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173105807 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0143 |
3 | 200 | 0.0150 | 8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173137822 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01255.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(11): Show |
14 | 200 | 0.0700 | 8 | c.-19 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217656546 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01891.hp1 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0190 a0001c0001t0002g0019 others(7): Show |
10 | 252 | 0.0397 | 8 | c.240 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217656578 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG02896.hp1 |
a0001a0005 | a0001c0003a0001c0004a0005c0013 | a0001c0003t0001a0001c0004t0005a0005c0013t0033 | a0001c0003t0001g0231 a0001c0004t0005g0233 a0005c0013t0033g0095 |
3 | 252 | 0.0119 | 8 | c.240 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217704230 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0033 a0001c0001t0006g0201 a0001c0001t0006g0202 others(4): Show |
7 | 252 | 0.0278 | 8 | c.395 others(27): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749977 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 NA19009.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0022a0001c0005t0001 | a0001c0002t0001g0108 a0001c0002t0022g0194 a0001c0005t0001g0141 |
3 | 252 | 0.0119 | 8 | c.519 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749979 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0173 a0001c0001t0008g0136 a0001c0002t0001g0138 others(1): Show |
4 | 252 | 0.0159 | 8 | c.519 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749981 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02738.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0052 | a0001c0001t0001g0163 a0001c0001t0001g0216 a0001c0002t0001g0191 others(1): Show |
4 | 252 | 0.0159 | 8 | c.519 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | A | AATTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 others(10): Show |
13 | 252 | 0.0516 | 8 | c.520 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217829627 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0007others(3): Show | a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 others(5): Show |
8 | 252 | 0.0318 | 8 | c.100 others(29): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217872911 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG02055.hp1 HG02257.hp1 others(4): Show |
a0001a0003a0005 | a0001c0002a0003c0007a0005c0013 | a0001c0002t0009a0001c0002t0013a0001c0002t0026others(3): Show | a0001c0002t0009g0072 a0001c0002t0013g0121 a0001c0002t0026g0048 others(4): Show |
7 | 252 | 0.0278 | 8 | c.*58 others(19): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1216 | chr1 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52050315 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02280.hp2 HG02615.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0059 others(15): Show |
20 | 308 | 0.0649 | 8 | c.-13 others(19): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 988 | chr4 | TogoVar | |||||||
SPATA20_chr17_50542174_50560852 | 50544882 | G | GTCTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02976.hp1 |
a0001a0013 | a0001c0001a0013c0019 | a0001c0001t0001a0013c0019t0001 | a0001c0001t0001g0052 a0001c0001t0001g0075 a0013c0019t0001g0053 |
3 | 334 | 0.0090 | 8 | c.-23 others(19): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 2291 | chr17 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16414893 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02886.hp1 HG03098.hp2 others(3): Show |
a0004a0012a0013others(2): Show | a0004c0004a0012c0010a0013c0015others(2): Show | a0004c0004t0002a0012c0010t0001a0012c0010t0004others(3): Show | a0004c0004t0002g0326 a0012c0010t0001g0148 a0012c0010t0004g0258 others(3): Show |
6 | 352 | 0.0171 | 8 | c.145 others(25): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3435327 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02896.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 others(7): Show |
10 | 420 | 0.0238 | 8 | c.*48 others(19): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA25_chr20_45881491_45892622 | 45884105 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 5 | 406 | 0.0123 | 8 | c.*24 others(19): Show |
SPATA25 | ENSG00000149634.5 | transcript | ENST00000372519.4 | protein_coding | 2385 | chr20 | TogoVar | |||||||
SPATA31A7_chr9_61185036_61201280 | 61190816 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01106.hp1 others(11): Show |
a0001a0003a0004others(8): Show | a0001c0006a0001c0009a0003c0005others(9): Show | a0001c0006t0001a0001c0009t0001a0003c0005t0001others(9): Show | a0001c0006t0001g0061 a0001c0009t0001g0064 a0003c0005t0001g0025 others(10): Show |
14 | 225 | 0.0622 | 8 | c.189 others(23): Show |
SPATA31A7 | ENSG00000276040.5 | transcript | ENST00000619167.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG02027.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0041others(1): Show | a0001c0001t0001g0014 a0002c0002t0001g0014 a0003c0003t0041g0014 others(1): Show |
7 | 380 | 0.0184 | 8 | c.293 others(21): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31F1_chr9_34718053_34734488 | 34721399 | T | TTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(18): Show |
a0006a0007a0012others(1): Show | a0006c0007a0007c0008a0012c0014others(1): Show | a0006c0007t0004a0007c0008t0004a0012c0014t0005others(1): Show | a0006c0007t0004g0008 a0007c0008t0004g0013 a0007c0008t0004g0046 others(2): Show |
21 | 448 | 0.0469 | 8 | c.*18 others(19): Show |
SPATA31F1 | ENSG00000205108.6 | transcript | ENST00000378788.4 | protein_coding | 1653 | chr9 | TogoVar | |||||||
SPATA31F3_chr9_34884066_34900764 | 34886746 | A | ATCTGTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(108): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0022 others(12): Show |
111 | 434 | 0.2558 | 8 | c.*26 others(19): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2319 | chr9 | TogoVar | |||||||
SPATA31F3_chr9_34884066_34900764 | 34886750 | A | ATCTGTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02074.hp2 HG02258.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0004c0004t0001g0005 |
9 | 434 | 0.0207 | 8 | c.*26 others(19): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2315 | chr9 | TogoVar | |||||||
SPATA31F3_chr9_34884066_34900764 | 34886795 | A | AATCTATG others(1): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0049 |
3 | 434 | 0.0069 | 8 | c.*25 others(19): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2270 | chr9 | TogoVar | |||||||
SPATA31F3_chr9_34884066_34900764 | 34886834 | G | GTATCTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(68): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(5): Show |
71 | 434 | 0.1636 | 8 | c.*25 others(19): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2231 | chr9 | TogoVar | |||||||
SPATA32_chr17_45249393_45267094 | 45250258 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(6): Show |
15 | 414 | 0.0362 | 8 | c.*41 others(19): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 4134 | chr17 | TogoVar | |||||||
SPATA33_chr16_89652836_89675458 | 89674496 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00735.hp1 others(23): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0003a0007c0006t0003 | a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0011 others(11): Show |
26 | 422 | 0.0616 | 8 | c.*49 others(19): Show |
SPATA33 | ENSG00000167523.15 | transcript | ENST00000579310.6 | protein_coding | 4039 | chr16 | TogoVar | |||||||
SPATA3_chr2_230991121_231013040 | 231011072 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02896.hp2 NA18963.hp1 others(3): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0006c0008t0009 | a0003c0003t0001g0006 a0003c0003t0001g0028 a0003c0003t0001g0045 others(2): Show |
6 | 436 | 0.0138 | 8 | c.*39 others(19): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 3033 | chr2 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212826778 | A | ACAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(1): Show |
5 | 402 | 0.0124 | 8 | c.*34 others(19): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3362 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212827090 | A | AAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 402 | 0.0075 | 8 | c.*31 others(19): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3050 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212843100 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0141 others(4): Show |
12 | 402 | 0.0299 | 8 | c.-39 others(25): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50100812 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0215 a0001c0001t0001g0216 others(17): Show |
21 | 328 | 0.0640 | 8 | c.554 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50123567 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(11): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0006 | a0002c0002t0001a0002c0005t0001a0003c0006t0001 | a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0005t0001g0251 others(11): Show |
14 | 328 | 0.0427 | 8 | c.652 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |