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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3084): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0059 | 1 | 8 | 0.1250 | 3091 | c.400 others(3110): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3084): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 233 | 0.0043 | 3091 | c.-91 others(3112): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3084): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 7 | 0.1429 | 3091 | c.*27 others(3102): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3084): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0112 | 1 | 20 | 0.0500 | 3091 | c.206 others(3110): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3084): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0024 | a0003c0024t0004 | a0003c0024t0004g0245 | 1 | 19 | 0.0526 | 3091 | c.389 others(3110): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5931572 | C | CAGACCAG others(3085): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 139 | 0.0072 | 3092 | c.23- others(3107): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5931572 | C | CAGACCAG others(3085): Show |
intron_variant | MODIFIER | HG01109.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 |
2 | 140 | 0.0143 | 3092 | c.23- others(3107): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(3085): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0022 | a0006c0022t0004 | a0006c0022t0004g0039 | 1 | 3 | 0.3333 | 3092 | c.830 others(3109): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3085): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 8 | 0.1250 | 3092 | c.400 others(3111): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3085): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 5 | 0.2000 | 3092 | c.327 others(3109): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3085): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02129.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(9): Show |
13 | 17 | 0.7647 | 3092 | c.327 others(3109): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3085): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0309 a0001c0001t0003g0310 |
2 | 6 | 0.3333 | 3092 | c.327 others(3109): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(3085): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 5 | 0.2000 | 3092 | c.327 others(3109): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3085): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0211 | 1 | 303 | 0.0033 | 3092 | c.192 others(3107): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(3085): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 319 | 0.0031 | 3092 | c.*35 others(3111): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(3086): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0134 | 1 | 197 | 0.0051 | 3093 | c.578 others(3106): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3086): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0061 | 1 | 129 | 0.0078 | 3093 | c.280 others(3114): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3086): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 |
3 | 6 | 0.5000 | 3093 | c.115 others(3112): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3086): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 4 | 0.2500 | 3093 | c.115 others(3112): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3086): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 4 | 0.2500 | 3093 | c.115 others(3112): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3086): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0034 | a0001c0034t0047 | a0001c0034t0047g0032 | 1 | 8 | 0.1250 | 3093 | c.400 others(3112): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3086): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0025 | 1 | 233 | 0.0043 | 3093 | c.-91 others(3114): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3086): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0041 | 1 | 6 | 0.1667 | 3093 | c.209 others(3108): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(3086): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0023 | a0023c0028 | a0023c0028t0001 | a0023c0028t0001g0172 | 1 | 176 | 0.0057 | 3093 | c.147 others(3110): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3086): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 7 | 0.1429 | 3093 | c.*27 others(3104): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693528 | T | TCCACCAC others(3086): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 46 | 0.0217 | 3093 | c.299 others(3110): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3086): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 23 | 0.0435 | 3093 | c.284 others(3112): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3086): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 35 | 0.0286 | 3093 | c.-28 others(3112): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3087): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0129 | 1 | 76 | 0.0132 | 3094 | c.955 others(3111): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(3087): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 4 | 0.2500 | 3094 | c.347 others(3115): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(3087): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0032 | 1 | 4 | 0.2500 | 3094 | c.347 others(3115): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3087): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 4 | 0.2500 | 3094 | c.115 others(3113): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916027 | C | CGACATGC others(3087): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0223 | 1 | 151 | 0.0066 | 3094 | c.179 others(3113): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | chr7 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706321 | C | CATAGATA others(3087): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0013 | a0013c0042 | a0013c0042t0001 | a0013c0042t0001g0052 | 1 | 258 | 0.0039 | 3094 | c.228 others(3111): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706321 | C | CATAGATA others(3087): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0355 | 1 | 331 | 0.0030 | 3094 | c.-50 others(3105): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4879 | chr4 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3087): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 a0001c0001t0006g0193 |
2 | 43 | 0.0465 | 3094 | c.139 others(3115): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120165 | A | AACAGGGA others(3087): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 208 | 0.0048 | 3094 | c.353 others(3111): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3087): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 7 | 0.1429 | 3094 | c.*27 others(3105): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3088): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0243 | 1 | 252 | 0.0040 | 3095 | c.42- others(3110): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3088): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0028 | a0002c0028t0012 | a0002c0028t0012g0232 | 1 | 8 | 0.1250 | 3095 | c.400 others(3114): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGGAAG others(3089): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 2 | 0.5000 | 3096 | c.44- others(3109): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3089): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0012 | 1 | 129 | 0.0078 | 3096 | c.280 others(3117): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3089): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 233 | 0.0043 | 3096 | c.-91 others(3117): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCCTCCA others(3089): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0008 | a0008c0035 | a0008c0035t0007 | a0008c0035t0007g0137 | 1 | 213 | 0.0047 | 3096 | c.258 others(3113): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3089): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0260 | 1 | 220 | 0.0045 | 3096 | c.129 others(3115): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3089): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 6 | 0.1667 | 3096 | c.209 others(3111): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693441 | A | ACCACCTC others(3089): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 31 | 0.0323 | 3096 | c.-33 others(3107): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3210 | chr20 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916027 | C | CGACATGC others(3090): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA19240.hp1 |
a0005a0007 | a0005c0008a0007c0009 | a0005c0008t0003a0007c0009t0003a0007c0009t0020 | a0005c0008t0003g0221 a0007c0009t0003g0220 a0007c0009t0020g0222 |
3 | 153 | 0.0196 | 3097 | c.179 others(3116): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | chr7 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3090): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0045 | 1 | 8 | 0.1250 | 3097 | c.400 others(3116): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3090): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 297 | 0.0034 | 3097 | c.-91 others(3118): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar |