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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCTG others(1090): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0201 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCTG others(1090): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0323 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20669004 | G | GCCCAGTC others(1090): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0053 | 1 | 360 | 0.0028 | 1097 | c.170 others(1118): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1090): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0000 | 1 | 416 | 0.0024 | 1097 | c.*10 others(1110): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1090): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1097 | c.*10 others(1110): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1090): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 a0001c0002t0002g0020 |
2 | 242 | 0.0083 | 1097 | c.927 others(1114): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251561 | A | AAGGGAAG others(1090): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 242 | 0.0041 | 1097 | c.927 others(1114): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83026615 | T | TACACAGA others(1090): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0249 | 1 | 266 | 0.0038 | 1097 | c.297 others(1114): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1090): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0185 | 1 | 258 | 0.0039 | 1097 | c.403 others(1112): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1090): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(36): Show |
a0001a0004a0005others(5): Show | a0001c0009a0004c0002a0004c0083others(9): Show | a0001c0009t0001a0004c0002t0001a0004c0083t0001others(9): Show | a0001c0009t0001g0222 a0001c0009t0001g0236 a0001c0009t0001g0262 others(36): Show |
39 | 278 | 0.1403 | 1097 | c.328 others(1114): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1090): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 276 | 0.0036 | 1097 | c.*51 others(1108): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(1090): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 418 | 0.0024 | 1097 | c.738 others(1112): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(1090): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 250 | 0.0040 | 1097 | c.259 others(1116): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1090): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 418 | 0.0048 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1090): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0004g0277 others(1): Show |
4 | 418 | 0.0096 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574480 | A | AGGGGAGG others(1090): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 418 | 0.0024 | 1097 | c.119 others(1116): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551500 | G | GGAAGAGG others(1090): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0014 | 1 | 46 | 0.0217 | 1097 | c.-17 others(1116): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1090): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0070 | 1 | 236 | 0.0042 | 1097 | c.193 others(1116): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTATT others(1090): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 260 | 0.0039 | 1097 | c.125 others(1114): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1090): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0035 a0001c0002t0034g0176 |
2 | 288 | 0.0069 | 1097 | c.127 others(1114): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTTC others(1090): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0032 | 1 | 295 | 0.0034 | 1097 | c.126 others(1116): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0029 | a0001c0001t0017g0272 a0001c0001t0029g0271 |
2 | 272 | 0.0074 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0225 a0001c0001t0004g0237 a0001c0001t0008g0100 others(5): Show |
8 | 272 | 0.0294 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1090): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0056 a0001c0001t0038g0236 |
2 | 272 | 0.0074 | 1097 | c.234 others(1118): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1090): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 304 | 0.0033 | 1097 | c.347 others(1112): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1090): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03710.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0074 |
2 | 334 | 0.0060 | 1097 | c.45- others(1112): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1090): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 334 | 0.0030 | 1097 | c.45- others(1112): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934601 | G | GGGCGGCT others(1090): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0320 | 1 | 434 | 0.0023 | 1097 | c.843 others(1114): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1090): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0174 | 1 | 214 | 0.0047 | 1097 | c.206 others(1116): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1090): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0145 | 1 | 322 | 0.0031 | 1097 | c.597 others(1114): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
ZFPM2_chr8_105313438_105809539 | 105533822 | T | TCTTCCTT others(1090): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0056 | 1 | 92 | 0.0109 | 1097 | c.302 others(1116): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975232 | T | TTTATATA others(1091): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0289 | 1 | 306 | 0.0033 | 1098 | c.130 others(1117): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0274 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0003 | a0003c0002 | a0003c0002t0015 | a0003c0002t0015g0318 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0240 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0204 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0285 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1091): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0153 | 1 | 360 | 0.0028 | 1098 | c.170 others(1119): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89398272 | T | TTACCTGT others(1091): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0043 | a0043c0061 | a0043c0061t0003 | a0043c0061t0003g0120 | 1 | 310 | 0.0032 | 1098 | c.-60 others(1117): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(1091): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 334 | 0.0030 | 1098 | c.838 others(1113): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(1091): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 334 | 0.0030 | 1098 | c.838 others(1113): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1091): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 242 | 0.0041 | 1098 | c.927 others(1115): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251495 | A | AAGGGAAG others(1091): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0130 | 1 | 242 | 0.0041 | 1098 | c.927 others(1115): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1091): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 242 | 0.0041 | 1098 | c.927 others(1115): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1091): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0105 | 1 | 210 | 0.0048 | 1098 | c.273 others(1115): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411267 | C | CCTGCTGG others(1091): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0016 | 1 | 322 | 0.0031 | 1098 | c.-23 others(1109): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2121 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1091): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 |
a0002a0062 | a0002c0002a0062c0092 | a0002c0002t0001a0062c0092t0003 | a0002c0002t0001g0324 a0062c0092t0003g0048 |
2 | 338 | 0.0059 | 1098 | c.300 others(1115): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1091): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0041 | a0041c0029 | a0041c0029t0001 | a0041c0029t0001g0303 | 1 | 384 | 0.0026 | 1098 | c.273 others(1113): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1091): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02559.hp2 others(2): Show |
a0015a0027a0029 | a0015c0022a0027c0078a0029c0079 | a0015c0022t0001a0027c0078t0001a0029c0079t0001 | a0015c0022t0001g0130 a0015c0022t0001g0131 a0015c0022t0001g0132 others(2): Show |
5 | 384 | 0.0130 | 1098 | c.273 others(1113): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar |