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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO2_chr12_5557655_5950259 | 5931539 | A | ACTGGTAA others(3451): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 162 | 0.0062 | 3458 | c.23- others(3473): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(3451): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0038 | 1 | 214 | 0.0047 | 3458 | c.565 others(3475): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3451): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0050a0001c0001t0001g0118a0001c0001t0016g0043 | 3 | 175 | 0.0171 | 3458 | c.164 others(3477): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716161 | G | GTGTCATG others(3451): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0036 | 1 | 170 | 0.0059 | 3458 | c.86- others(3471): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997458 | G | GGGTCGGG others(3451): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0357 | 1 | 375 | 0.0027 | 3458 | c.-20 others(3469): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 212 | chr6 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3452): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 424 | 0.0024 | 3459 | c.*49 others(3470): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3452): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 424 | 0.0024 | 3459 | c.*49 others(3470): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
GPLD1_chr6_24420832_24494578 | 24451255 | T | TTCTAGAT others(3452): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 358 | 0.0028 | 3459 | c.133 others(3478): Show |
GPLD1 | ENSG00000112293.15 | transcript | ENST00000230036.2 | protein_coding | 14/24 | chr6 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(3452): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 80 | 0.0125 | 3459 | c.125 others(3476): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322664 | T | TACGGAAT others(3454): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 323 | 0.0031 | 3461 | c.-23 others(3472): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87918630 | T | TCCTCTGG others(3454): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0036 | a0036c0047 | a0036c0047t0001 | a0036c0047t0001g0025 | 1 | 388 | 0.0026 | 3461 | c.190 others(3476): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VAPB_chr20_58384229_58456101 | 58395909 | T | TAAAAAAC others(3454): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 370 | 0.0027 | 3461 | c.58+ others(3476): Show |
VAPB | ENSG00000124164.16 | transcript | ENST00000475243.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ANO2_chr12_5557655_5950259 | 5932398 | A | ATAGACTA others(3455): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0003 | 1 | 162 | 0.0062 | 3462 | c.23- others(3477): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932398 | A | ATAGACTA others(3455): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 162 | 0.0062 | 3462 | c.23- others(3477): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(3455): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 230 | 0.0044 | 3462 | c.724 others(3481): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322715 | A | ACGGAATG others(3455): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 323 | 0.0031 | 3462 | c.-23 others(3473): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2254 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3455): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 323 | 0.0031 | 3462 | c.-21 others(3473): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833478 | G | GAAAAAGA others(3456): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 424 | 0.0024 | 3463 | c.*49 others(3474): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4688 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649203 | A | ACCCGGCA others(3456): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 332 | 0.0030 | 3463 | c.112 others(3480): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312137 | C | CAGCTAGC others(3456): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049 | 2 | 344 | 0.0058 | 3463 | c.327 others(3480): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771927 | A | AGGGAGGG others(3456): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0116 | 1 | 272 | 0.0037 | 3463 | c.389 others(3482): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3456): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01975.hp1 others(12): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(3): Show | a0002c0002t0002g0000a0002c0002t0004g0000a0002c0002t0005g0000others(3): Show | 15 | 99 | 0.1515 | 3463 | c.*41 others(3474): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3456): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0000 | 1 | 99 | 0.0101 | 3463 | c.*41 others(3474): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3456): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0000 | 1 | 99 | 0.0101 | 3463 | c.*41 others(3474): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(3458): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 290 | 0.0035 | 3465 | c.-95 others(3484): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(3458): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0314 | 1 | 376 | 0.0027 | 3465 | c.101 others(3482): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87917050 | A | AATTACAT others(3458): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 3465 | c.-94 others(3474): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 911 | chr9 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3458): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0034 | a0001c0034t0006 | a0001c0034t0006g0025 | 1 | 128 | 0.0078 | 3465 | c.765 others(3484): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3459): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0032 | 1 | 298 | 0.0034 | 3466 | c.126 others(3483): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3459): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 323 | 0.0031 | 3466 | c.-21 others(3477): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916938 | A | AGTGAGCC others(3459): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0003 | 1 | 388 | 0.0026 | 3466 | c.-10 others(3477): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1023 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88139849 | C | CTTTAGCC others(3459): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0101 | 1 | 446 | 0.0022 | 3466 | c.-14 others(3477): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1375 | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(3460): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 250 | 0.0040 | 3467 | c.105 others(3484): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPATA31C2_chr9_88124305_88143475 | 88133966 | A | AGCCATGG others(3460): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 446 | 0.0022 | 3467 | c.190 others(3482): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88133966 | A | AGCCATGG others(3460): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19010.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 2 | 446 | 0.0045 | 3467 | c.190 others(3482): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88133966 | A | AGCCATGG others(3460): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 446 | 0.0022 | 3467 | c.190 others(3482): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88133966 | A | AGCCATGG others(3460): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 446 | 0.0022 | 3467 | c.190 others(3482): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88135996 | C | CGCTCTTG others(3460): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 446 | 0.0022 | 3467 | c.189 others(3484): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88139646 | T | TTCTCCTG others(3460): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01257.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281a0002c0002t0001g0296 | 2 | 446 | 0.0045 | 3467 | c.-12 others(3478): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1172 | chr9 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239142 | G | GCAGCCCC others(3461): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0061 | 1 | 72 | 0.0139 | 3468 | c.694 others(3485): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3461): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0000 | 1 | 99 | 0.0101 | 3468 | c.*41 others(3479): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
SPATA31C1_chr9_87912962_87928657 | 87916996 | C | CAAAAAAA others(3462): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | 3469 | c.-99 others(3478): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 965 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88133966 | A | AGCCATGG others(3462): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 | 1 | 446 | 0.0022 | 3469 | c.190 others(3484): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88134247 | C | CCCAGGCT others(3462): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0270 | 1 | 446 | 0.0022 | 3469 | c.190 others(3484): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88135863 | A | ATTTTTTA others(3462): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0020 | a0020c0029 | a0020c0029t0001 | a0020c0029t0001g0211 | 1 | 446 | 0.0022 | 3469 | c.190 others(3486): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88136156 | T | TTCTCCTG others(3462): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0269 | 1 | 446 | 0.0022 | 3469 | c.189 others(3486): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82360453 | G | GTTCCCCC others(3462): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 380 | 0.0026 | 3469 | c.-27 others(3488): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANLN_chr7_36384862_36458791 | 36392484 | T | TCCTACTT others(3463): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 408 | 0.0025 | 3470 | c.18+ others(3485): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87913323 | G | GAGACCAT others(3463): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | 3470 | c.-46 others(3481): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4638 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137326 | T | TAAAAAAA others(3463): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 |
a0002a0038 | a0002c0021a0038c0052 | a0002c0021t0001a0038c0052t0001 | a0002c0021t0001g0248a0038c0052t0001g0249 | 2 | 446 | 0.0045 | 3470 | c.189 others(3485): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar |