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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(540): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 290 | 0.0035 | 547 | c.464 others(560): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SHANK1_chr19_50654255_50724802 | 50679070 | A | ATGGGGAG others(540): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0073 | 1 | 316 | 0.0032 | 547 | c.257 others(566): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(540): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03831.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119a0001c0001t0002g0137a0001c0001t0002g0138 | 3 | 300 | 0.0100 | 547 | c.626 others(564): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(540): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0142a0001c0001t0001g0183a0001c0001t0001g0196others(4): Show | 7 | 364 | 0.0192 | 547 | c.157 others(566): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(540): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0009 | 1 | 364 | 0.0028 | 547 | c.157 others(566): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628971 | A | AGGGGGTG others(540): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 352 | 0.0028 | 547 | c.299 others(564): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TECPR1_chr7_98209624_98257232 | 98243001 | T | TCCATCCA others(540): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0219 | 1 | 346 | 0.0029 | 547 | c.657 others(562): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | ||||||
TECPR1_chr7_98209624_98257232 | 98243001 | T | TCCATCCA others(540): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 | 1 | 346 | 0.0029 | 547 | c.657 others(562): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1202419 | C | CCCAGCCC others(540): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0015 | 1 | 386 | 0.0026 | 547 | c.*14 others(558): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1088 | chr1 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CAGGGGTT others(540): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 466 | 0.0022 | 547 | c.*46 others(558): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CAGGGGTT others(540): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 466 | 0.0022 | 547 | c.*46 others(558): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CAGGGGTT others(540): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0025 | 2 | 466 | 0.0043 | 547 | c.*46 others(558): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CAGGGGTT others(540): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 466 | 0.0022 | 547 | c.*46 others(558): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930923 | C | CAGGGGTT others(540): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 466 | 0.0022 | 547 | c.*46 others(558): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4446 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273368 | A | AAAAATTA others(540): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 1 | 272 | 0.0037 | 547 | c.*29 others(558): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2255 | chr11 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(540): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0042 | 1 | 334 | 0.0030 | 547 | c.657 others(562): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(540): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0224 | 1 | 246 | 0.0041 | 547 | c.53- others(560): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(540): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0097 | 1 | 346 | 0.0029 | 547 | c.181 others(568): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(540): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0189 | a0001c0001t0189g0246 | 1 | 346 | 0.0029 | 547 | c.181 others(568): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(540): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0139 | 1 | 383 | 0.0026 | 547 | c.-42 others(558): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(540): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0142 | 1 | 383 | 0.0026 | 547 | c.-42 others(558): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1117903 | T | TCCCAGTG others(541): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0156 | 1 | 337 | 0.0030 | 548 | c.246 others(565): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(541): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 366 | 0.0027 | 548 | c.-50 others(559): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(541): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0083 | 1 | 169 | 0.0059 | 548 | c.48- others(565): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29831108 | G | GAGGAGGA others(541): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0042 | a0004c0042t0003 | a0004c0042t0003g0073 | 1 | 80 | 0.0125 | 548 | c.667 others(567): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38570996 | A | ATAGAATA others(541): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004 | a0001c0001t0001g0161a0003c0006t0004g0085 | 2 | 288 | 0.0069 | 548 | c.70- others(565): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(541): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18954.hp1 NA18961.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0066a0003c0004t0002g0068a0003c0004t0002g0071others(3): Show | 6 | 334 | 0.0180 | 548 | c.147 others(565): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(541): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0067 | 1 | 334 | 0.0030 | 548 | c.147 others(565): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(541): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0010a0001c0004t0005g0176a0001c0004t0005g0193others(3): Show | 6 | 210 | 0.0286 | 548 | c.273 others(565): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1449723 | C | CCATCACC others(541): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0139 | 1 | 185 | 0.0054 | 548 | c.93+ others(563): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51740560 | A | AATTAGGC others(541): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0247a0001c0001t0007g0267 | 2 | 312 | 0.0064 | 548 | c.69- others(565): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(541): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 548 | c.-22 others(559): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201283070 | C | CGGGGCGG others(541): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0245 | 1 | 386 | 0.0026 | 548 | c.803 others(565): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTGT others(541): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 362 | 0.0028 | 548 | c.-50 others(559): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(541): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0052 | 1 | 442 | 0.0023 | 548 | c.*27 others(559): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(541): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0067 | 1 | 256 | 0.0039 | 548 | c.-45 others(569): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278758 | T | TCCCCTCC others(541): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 256 | 0.0039 | 548 | c.-45 others(569): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(541): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0017 | 1 | 270 | 0.0037 | 548 | c.162 others(569): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(541): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 270 | 0.0037 | 548 | c.162 others(569): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(541): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 270 | 0.0037 | 548 | c.162 others(569): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110219870 | G | GTATATAT others(541): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02976.hp1 HG03540.hp1 |
a0002a0003 | a0002c0004a0002c0110a0003c0098 | a0002c0004t0007a0002c0110t0003a0003c0098t0003 | a0002c0004t0007g0174a0002c0110t0003g0257a0003c0098t0003g0206 | 3 | 344 | 0.0087 | 548 | c.145 others(565): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587722 | C | CCGTGTCA others(541): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 348 | 0.0029 | 548 | c.927 others(563): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3354891 | C | CTATCTAT others(541): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0029 | a0029c0028 | a0029c0028t0024 | a0029c0028t0024g0040 | 1 | 126 | 0.0079 | 548 | c.330 others(567): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(541): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 126 | 0.0079 | 548 | c.416 others(569): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(541): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0040 | a0001c0040t0019 | a0001c0040t0019g0123 | 1 | 126 | 0.0079 | 548 | c.416 others(569): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875266 | C | CCACCCCC others(541): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0106 | 1 | 320 | 0.0031 | 548 | c.*39 others(559): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2476 | chr20 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(541): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006a0001c0001t0005g0018 | 2 | 212 | 0.0094 | 548 | c.316 others(567): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(541): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 290 | 0.0035 | 548 | c.757 others(565): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(541): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0026 | a0026c0028 | a0026c0028t0003 | a0026c0028t0003g0003 | 1 | 290 | 0.0035 | 548 | c.757 others(565): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(541): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0276 | 1 | 290 | 0.0035 | 548 | c.757 others(565): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar |