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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKP3_chr11_389209_409908 | 401483 | A | ACCCCGGC others(630): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0140 | 1 | 205 | 0.0049 | 637 | c.173 others(654): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(630): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 82 | 0.0122 | 637 | c.147 others(654): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(630): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 27 | 0.0370 | 637 | c.-75 others(656): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(630): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 27 | 0.0370 | 637 | c.-75 others(656): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(630): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 121 | 0.0083 | 637 | c.59- others(654): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6362935 | G | GGCCTCCC others(630): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0006a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 others(102): Show |
116 | 298 | 0.3893 | 637 | c.684 others(652): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6362935 | G | GGCCTCCC others(630): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG01952.hp1 others(5): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0155 a0003c0003t0001g0233 a0003c0003t0001g0242 others(5): Show |
8 | 190 | 0.0421 | 637 | c.684 others(652): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6362935 | G | GGCCTCCC others(630): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG02965.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0211 a0001c0001t0001g0268 a0001c0001t0001g0310 others(5): Show |
8 | 190 | 0.0421 | 637 | c.684 others(652): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6362935 | G | GGCCTCCC others(630): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0377 | 1 | 183 | 0.0055 | 637 | c.684 others(652): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(630): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 283 | 0.0035 | 637 | c.115 others(654): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934405 | T | TATATATA others(630): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0137 | 1 | 309 | 0.0032 | 637 | c.115 others(654): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(630): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0027 | 1 | 226 | 0.0044 | 637 | c.234 others(654): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(630): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 132 | 0.0076 | 637 | c.-70 others(654): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(630): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01167.hp2 others(4): Show |
a0001a0002a0003 | a0001c0010a0001c0016a0002c0002others(1): Show | a0001c0010t0008a0001c0016t0008a0001c0016t0036others(3): Show | a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 others(4): Show |
7 | 8 | 0.8750 | 637 | c.227 others(656): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(630): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 637 | c.*12 others(648): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(630): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 637 | c.*12 others(648): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(630): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 637 | c.*12 others(648): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843760 | C | CGTGATCT others(630): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0007 | a0007c0010 | a0007c0010t0008 | a0007c0010t0008g0312 | 1 | 177 | 0.0056 | 637 | c.245 others(654): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(630): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 80 | 0.0125 | 637 | c.*64 others(648): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(630): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 80 | 0.0125 | 637 | c.*64 others(648): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(630): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 80 | 0.0125 | 637 | c.*64 others(648): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TCF25_chr16_89868592_89916379 | 89908689 | C | CCTCCCTC others(630): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0278 | 1 | 179 | 0.0056 | 637 | c.179 others(656): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89908690 | C | CTCCCTCC others(630): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 277 | 0.0036 | 637 | c.179 others(656): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628706 | A | ATGAGGCG others(630): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 120 | 0.0083 | 637 | c.299 others(654): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377554 | G | GCCCCACC others(630): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 345 | 0.0029 | 637 | c.-15 others(648): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1529 | chr19 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334825 | G | GATGCCCT others(630): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 341 | 0.0029 | 637 | c.-2+ others(652): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334825 | G | GATGCCCT others(630): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG01928.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0053 a0002c0002t0001g0054 others(1): Show |
5 | 345 | 0.0145 | 637 | c.-2+ others(652): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(630): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 8 | 0.1250 | 637 | c.424 others(654): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(630): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0197 a0001c0001t0008g0198 |
2 | 9 | 0.2222 | 637 | c.424 others(654): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(630): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0306 | 1 | 8 | 0.1250 | 637 | c.424 others(654): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CGGGGTTA others(630): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 380 | 0.0026 | 637 | c.*46 others(648): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(630): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0123 | 1 | 24 | 0.0417 | 637 | c.82+ others(652): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(630): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0163 | 1 | 24 | 0.0417 | 637 | c.82+ others(652): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
USP13_chr3_179648040_179794401 | 179727828 | C | CGGCTGGC others(630): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 224 | 0.0045 | 637 | c.108 others(656): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237092 | A | AGGGAGAG others(630): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 319 | 0.0031 | 637 | c.375 others(650): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(630): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0236 | 1 | 44 | 0.0227 | 637 | c.-1- others(654): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(630): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 44 | 0.0227 | 637 | c.-1- others(654): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613138 | C | CTCTCACT others(630): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 320 | 0.0031 | 637 | c.4-1 others(650): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065035 | G | GCATGTTC others(631): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18999.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0087 a0001c0001t0004g0291 a0001c0001t0005g0292 |
3 | 336 | 0.0089 | 638 | c.118 others(657): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1290128 | C | CCGTGTCT others(631): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 228 | 0.0044 | 638 | c.*34 others(649): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2262 | chr1 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(631): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 30 | 0.0333 | 638 | c.*51 others(649): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69100947 | A | AAGGAGAG others(631): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 32 | 0.0313 | 638 | c.248 others(659): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69100947 | A | AGAGAGGG others(631): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 32 | 0.0313 | 638 | c.248 others(659): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | chr6 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(631): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01952.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0224 a0002c0002t0003g0148 a0002c0002t0003g0149 |
3 | 9 | 0.3333 | 638 | c.775 others(653): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(631): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0074 | a0002c0002t0074g0232 | 1 | 7 | 0.1429 | 638 | c.775 others(653): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(631): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0213 | 1 | 7 | 0.1429 | 638 | c.775 others(653): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(631): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02148.hp1 HG02738.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0059a0002c0003t0009a0002c0003t0082 | a0001c0001t0059g0154 a0002c0003t0009g0119 a0002c0003t0009g0155 others(1): Show |
4 | 10 | 0.4000 | 638 | c.775 others(653): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(631): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0127 | 1 | 2 | 0.5000 | 638 | c.39+ others(655): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79327566 | G | GTGGTTAA others(631): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0013 | a0013c0022 | a0013c0022t0004 | a0013c0022t0004g0277 | 1 | 291 | 0.0034 | 638 | c.177 others(657): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169484989 | T | TAAAAATC others(631): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00733.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0023a0001c0001t0031others(1): Show | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0037 others(9): Show |
20 | 391 | 0.0512 | 638 | c.143 others(655): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |