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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0138 | 1 | 125 | 0.0080 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(805): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 125 | 0.0080 | 812 | c.361 others(831): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173156 | C | CCCCATCA others(805): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0037 | a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0004t0037g0016 |
3 | 307 | 0.0098 | 812 | c.61+ others(827): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305263 | A | ATCCCACA others(805): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 213 | 0.0047 | 812 | c.318 others(831): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TATCCCGG others(805): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp2 |
a0002a0007 | a0002c0067a0007c0023 | a0002c0067t0013a0007c0023t0026 | a0002c0067t0013g0032 a0007c0023t0026g0031 |
2 | 84 | 0.0238 | 812 | c.213 others(831): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(805): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0157 |
2 | 146 | 0.0137 | 812 | c.298 others(829): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(805): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 209 | 0.0048 | 812 | c.-16 others(823): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCCG others(805): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 2 | 0.5000 | 812 | c.276 others(831): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(805): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 2 | 0.5000 | 812 | c.-14 others(827): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758460 | T | TCACCTGC others(805): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0263 | 1 | 166 | 0.0060 | 812 | c.655 others(831): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(805): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 165 | 0.0061 | 812 | c.654 others(831): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(805): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0117 a0001c0001t0007g0006 a0001c0001t0007g0062 others(2): Show |
11 | 346 | 0.0318 | 812 | c.*4+ others(825): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1093202 | A | AGCACACA others(805): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 2 | 337 | 0.0059 | 812 | c.*4+ others(825): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585204 | A | ATTGAGGG others(805): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0163 | 1 | 344 | 0.0029 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(805): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0006 | 1 | 333 | 0.0030 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(805): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0197 | 1 | 325 | 0.0031 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(805): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0220 |
3 | 263 | 0.0114 | 812 | c.-22 others(829): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0136 | 1 | 77 | 0.0130 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0031 a0013c0017t0001g0032 a0013c0017t0001g0038 |
3 | 79 | 0.0380 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(805): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(86): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0084a0002c0002others(21): Show | a0001c0001t0001a0001c0084t0001a0002c0002t0001others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0074 others(84): Show |
89 | 165 | 0.5394 | 812 | c.963 others(829): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(805): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 2 | 236 | 0.0085 | 812 | c.-22 others(823): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(805): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0014 | a0014c0030 | a0014c0030t0013 | a0014c0030t0013g0249 | 1 | 194 | 0.0052 | 812 | c.300 others(829): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940929 | A | AGGGGGGT others(805): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 55 | 0.0182 | 812 | c.234 others(833): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(805): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 243 | 0.0041 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(805): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0176 | 1 | 376 | 0.0027 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803011 | T | TGGGGGCC others(805): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0065 |
2 | 60 | 0.0333 | 812 | c.666 others(827): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421822 | A | AAAACACA others(805): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 421 | 0.0024 | 812 | c.413 others(829): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 422145 | G | GTTCCATT others(805): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0402 | 1 | 423 | 0.0024 | 812 | c.413 others(829): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(805): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 a0001c0001t0008g0037 |
2 | 39 | 0.0513 | 812 | c.248 others(829): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647319 | C | CCTCCTCC others(805): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02293.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0243 a0001c0001t0001g0267 |
3 | 263 | 0.0114 | 812 | c.*51 others(823): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1975 | chr15 | TogoVar | |||||||
FAM135B_chr8_138125023_138502261 | 138206229 | A | ACACAACT others(805): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0156 | 1 | 206 | 0.0049 | 812 | c.670 others(829): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 7/19 | chr8 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(805): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0131 |
2 | 13 | 0.1538 | 812 | c.617 others(829): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946797 | T | TACATATA others(805): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 342 | 0.0029 | 812 | c.617 others(829): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435881 | A | AAGGGACG others(805): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 86 | 0.0116 | 812 | c.-16 others(833): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531034 | G | GGAGTGTG others(805): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 337 | 0.0030 | 812 | c.*14 others(823): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1207 | chr11 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(805): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 285 | 0.0035 | 812 | c.666 others(829): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(805): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 285 | 0.0035 | 812 | c.666 others(829): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(805): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 204 | 0.0049 | 812 | c.-36 others(823): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(805): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 204 | 0.0049 | 812 | c.-36 others(823): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0313 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0281 others(1): Show |
4 | 208 | 0.0192 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 HG02155.hp1 others(5): Show |
a0001a0021 | a0001c0001a0001c0053a0021c0047 | a0001c0001t0002a0001c0001t0004a0001c0053t0002others(1): Show | a0001c0001t0002g0240 a0001c0001t0002g0253 a0001c0001t0002g0274 others(5): Show |
8 | 212 | 0.0377 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0029 | a0029c0051 | a0029c0051t0004 | a0029c0051t0004g0291 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar |