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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2248): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 378 | 0.0027 | 2255 | c.*50 others(2266): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2248): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0122 | 1 | 295 | 0.0034 | 2255 | c.126 others(2274): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGGA others(2248): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | 2255 | c.351 others(2274): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100747136 | C | CAAAAAAA others(2249): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0011 | a0011c0028 | a0011c0028t0002 | a0011c0028t0002g0074 | 1 | 314 | 0.0032 | 2256 | c.173 others(2277): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411096 | A | ATCCTGGG others(2249): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 322 | 0.0031 | 2256 | c.-21 others(2267): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1950 | chr19 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355677 | A | AAGGAGGA others(2249): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 82 | 0.0122 | 2256 | c.757 others(2271): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787317 | G | GTGACCTG others(2249): Show |
disruptive_inframe_insertion | MODERATE | HG01070.hp2 HG01071.hp1 |
a0019 | a0019c0014 | a0019c0014t0001 | a0019c0014t0001g0072a0019c0014t0001g0100 | 2 | 249 | 0.0080 | 2256 | c.426 others(2265): Show |
p.Gly others(2271): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4374/16756 | 4262/16239 | 1421/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2249): Show |
conservative_inframe_insertion | MODERATE | HG00733.hp1 HG02004.hp2 |
a0165a0173 | a0165c0108a0173c0048 | a0165c0108t0001a0173c0048t0001 | a0165c0108t0001g0081a0173c0048t0001g0146 | 2 | 249 | 0.0080 | 2256 | c.390 others(2265): Show |
p.Thr others(2271): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2249): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 242 | 0.0041 | 2256 | c.360 others(2275): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2250): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0157 | 1 | 334 | 0.0030 | 2257 | c.147 others(2274): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(2250): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0122 | a0001c0002t0122g0136 | 1 | 322 | 0.0031 | 2257 | c.-23 others(2268): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914604 | A | ACTCCCTC others(2250): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0018 | a0018c0058 | a0018c0058t0001 | a0018c0058t0001g0236 | 1 | 294 | 0.0034 | 2257 | c.515 others(2274): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2251): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 334 | 0.0030 | 2258 | c.147 others(2275): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2251): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0006 | a0001c0006t0025 | a0001c0006t0025g0273 | 1 | 288 | 0.0035 | 2258 | c.303 others(2277): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(2251): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 250 | 0.0040 | 2258 | c.105 others(2275): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2251): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0188 | 1 | 292 | 0.0034 | 2258 | c.228 others(2275): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2251): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0171 | 1 | 292 | 0.0034 | 2258 | c.228 others(2275): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2251): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0342 | 1 | 369 | 0.0027 | 2258 | c.-50 others(2269): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2251): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0260 | 1 | 369 | 0.0027 | 2258 | c.-50 others(2269): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2251): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0312 | 1 | 369 | 0.0027 | 2258 | c.-50 others(2269): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2251): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 301 | 0.0033 | 2258 | c.-11 others(2269): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2251): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0047 | 1 | 294 | 0.0034 | 2258 | c.153 others(2277): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2251): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 56 | 0.0179 | 2258 | c.135 others(2275): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2251): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 358 | 0.0028 | 2258 | c.257 others(2275): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2251): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02132.hp2 others(2): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0003a0004c0004t0007a0005c0005t0009 | a0001c0001t0003g0323a0004c0004t0007g0252a0004c0004t0007g0271others(2): Show | 5 | 358 | 0.0140 | 2258 | c.257 others(2275): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(2252): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 296 | 0.0034 | 2259 | c.*67 others(2270): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2252): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0158 | 1 | 334 | 0.0030 | 2259 | c.147 others(2276): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(2252): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 223 | 0.0045 | 2259 | c.-42 others(2270): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400827 | T | TCACCATC others(2252): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0014 | a0014c0058 | a0014c0058t0001 | a0014c0058t0001g0021 | 1 | 256 | 0.0039 | 2259 | c.323 others(2278): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2252): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023a0001c0001t0005g0178a0001c0001t0005g0184 | 5 | 390 | 0.0128 | 2259 | c.972 others(2272): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2252): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0181 | 1 | 322 | 0.0031 | 2259 | c.439 others(2276): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2252): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 294 | 0.0034 | 2259 | c.153 others(2278): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2252): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0028 | 2 | 116 | 0.0172 | 2259 | c.522 others(2276): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877387 | T | TGGAGGTT others(2252): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0067 | 1 | 274 | 0.0037 | 2259 | c.224 others(2278): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24424994 | T | TTAAATTC others(2252): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0027 | a0027c0035 | a0027c0035t0001 | a0027c0035t0001g0031 | 1 | 362 | 0.0028 | 2259 | c.497 others(2278): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 33/33 | chr13 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 50002096 | T | TGAAAGTA others(2253): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 104 | 0.0096 | 2260 | c.34+ others(2277): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2253): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 345 | 0.0029 | 2260 | c.*17 others(2271): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2253): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 2260 | c.*22 others(2271): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2253): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 378 | 0.0027 | 2260 | c.*50 others(2271): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859759 | A | ATGGGTGT others(2253): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 294 | 0.0034 | 2260 | c.153 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2253): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 276 | 0.0036 | 2260 | c.58- others(2277): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2253): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 HG02132.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0002g0019others(9): Show | 12 | 276 | 0.0435 | 2260 | c.58- others(2277): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185949 | T | TTAATGAA others(2253): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0307 | 1 | 348 | 0.0029 | 2260 | c.600 others(2279): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2254): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 390 | 0.0026 | 2261 | c.972 others(2274): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2254): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0150 | 1 | 186 | 0.0054 | 2261 | c.723 others(2278): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2254): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0075 | a0075c0085 | a0075c0085t0001 | a0075c0085t0001g0126 | 1 | 292 | 0.0034 | 2261 | c.218 others(2276): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099760 | C | CCCCCCAC others(2254): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 67 | 0.0149 | 2261 | c.56- others(2278): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2254): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0028a0001c0002t0057 | a0001c0002t0022g0220a0001c0002t0028g0131a0001c0002t0028g0132others(1): Show | 4 | 370 | 0.0108 | 2261 | c.438 others(2278): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2254): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0017 | a0017c0018 | a0017c0018t0024 | a0017c0018t0024g0030 | 1 | 390 | 0.0026 | 2261 | c.341 others(2278): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049932 | C | CACCGCTC others(2255): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0029 | 1 | 30 | 0.0333 | 2262 | c.255 others(2279): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |