| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(512): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 384 | 0.0026 | 519 | c.467 others(534): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(512): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0010 | 1 | 208 | 0.0048 | 519 | c.-97 others(536): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GSE1_chr16_85608322_85681200 | 85653220 | T | TCCTCCCC others(512): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0063 | 1 | 290 | 0.0035 | 519 | c.427 others(536): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(512): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 274 | 0.0037 | 519 | c.804 others(536): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322832 | A | ATGGAATA others(512): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 323 | 0.0031 | 519 | c.-22 others(530): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2137 | chr21 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031555 | A | AAGGGAGG others(512): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 282 | 0.0036 | 519 | c.290 others(538): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173111 | C | CCTCCTTC others(512): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0135 | 1 | 158 | 0.0063 | 519 | c.*11 others(540): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIAA0930_chr22_45187244_45245894 | 45229067 | A | AAGATCCC others(512): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0320 | 1 | 398 | 0.0025 | 519 | c.64+ others(536): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45229320 | T | TCCCCACC others(512): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0155 | a0001c0001t0155g0120 | 1 | 398 | 0.0025 | 519 | c.64+ others(536): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(512): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0149 | 1 | 375 | 0.0027 | 519 | c.317 others(536): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGCGGTG others(512): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0028 | 1 | 186 | 0.0054 | 519 | c.956 others(536): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LOC102723971_chr9_135609183_135624893 | 135620157 | T | TCTACTCC others(512): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003 | 1 | 450 | 0.0022 | 519 | c.*12 others(530): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 265 | chr9 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1334046 | T | TCACCCCT others(512): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 388 | 0.0026 | 519 | c.765 others(536): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579063 | T | TCACCATC others(512): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0121 | 1 | 362 | 0.0028 | 519 | c.391 others(534): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAP3K15_chrX_19355059_19520508 | 19478032 | G | GGGGGGAG others(512): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0141 | 1 | 163 | 0.0061 | 519 | c.525 others(536): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19478051 | A | AGGGGGGA others(512): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 163 | 0.0061 | 519 | c.525 others(536): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(512): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 2 | 288 | 0.0069 | 519 | c.-32 others(530): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43499851 | A | ATGGTGGA others(512): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0053 | 2 | 250 | 0.0080 | 519 | c.748 others(536): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(512): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 350 | 0.0029 | 519 | c.-28 others(530): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(512): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0212 | 1 | 362 | 0.0028 | 519 | c.-75 others(538): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(512): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 362 | 0.0028 | 519 | c.-75 others(538): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(512): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 356 | 0.0028 | 519 | c.91+ others(532): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(512): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 276 | 0.0036 | 519 | c.111 others(536): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(512): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0064a0001c0001t0002g0047a0001c0001t0002g0063others(12): Show | 15 | 276 | 0.0544 | 519 | c.111 others(536): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(512): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0115 | 1 | 386 | 0.0026 | 519 | c.*92 others(530): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(512): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0334 | 1 | 386 | 0.0026 | 519 | c.*92 others(530): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(512): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 386 | 0.0026 | 519 | c.*92 others(530): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(512): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0373 | 1 | 386 | 0.0026 | 519 | c.*92 others(530): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(512): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0104a0001c0001t0003g0157 | 2 | 242 | 0.0083 | 519 | c.360 others(538): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(512): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 242 | 0.0041 | 519 | c.360 others(538): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(512): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 439 | 0.0023 | 519 | c.-16 others(530): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3681031 | G | GTCCTCCA others(512): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0303 | 1 | 362 | 0.0028 | 519 | c.106 others(536): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
| PARP10_chr8_143972158_143991460 | 143982042 | G | GATGGTGC others(512): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 380 | 0.0026 | 519 | c.255 others(536): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503791 | T | AGAAGAAG others(512): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0017 | a0017c0029 | a0017c0029t0001 | a0017c0029t0001g0172 | 1 | 188 | 0.0053 | 519 | c.147 others(538): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PPFIA2_chr12_81252975_81764350 | 81642703 | T | TGTATCTA others(512): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 168 | 0.0060 | 519 | c.303 others(538): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
| PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(512): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0297 | 1 | 312 | 0.0032 | 519 | c.306 others(538): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(512): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213a0001c0001t0002g0215a0001c0001t0002g0233 | 3 | 252 | 0.0119 | 519 | c.139 others(538): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(512): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 252 | 0.0040 | 519 | c.139 others(538): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79495577 | A | ATGCGGGA others(512): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 154 | 0.0065 | 519 | c.-31 others(540): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388644 | C | CTAACTTA others(512): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 304 | 0.0033 | 519 | c.66+ others(534): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(512): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 133 | 0.0075 | 519 | c.351 others(538): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(512): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0042 | a0002c0042t0012 | a0002c0042t0012g0246 | 1 | 280 | 0.0036 | 519 | c.89- others(532): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(512): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0020 | a0001c0008t0020g0030 | 1 | 280 | 0.0036 | 519 | c.89- others(532): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 643630 | T | TCTGGTGT others(512): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0185 | a0001c0001t0185g0124 | 1 | 220 | 0.0046 | 519 | c.634 others(534): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2282078 | C | CGAGAGGA others(512): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 330 | 0.0030 | 519 | c.970 others(538): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(512): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0080 | 1 | 222 | 0.0045 | 519 | c.914 others(538): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
| SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(512): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 186 | 0.0054 | 519 | c.-50 others(530): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827203 | A | AACATATA others(512): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 302 | 0.0033 | 519 | c.12+ others(534): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(512): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 251 | 0.0040 | 519 | c.*34 others(528): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(512): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0103 | a0001c0103t0001 | a0001c0103t0001g0016 | 1 | 256 | 0.0039 | 519 | c.*22 others(530): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar |