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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM20A_chr17_68530116_68606367 | 68581402 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0031 | 1 | 377 | 0.0027 | 17 | c.404 others(36): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM20A_chr17_68530116_68606367 | 68581414 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 378 | 0.0026 | 17 | c.404 others(36): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13663191 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045 | 1 | 321 | 0.0031 | 17 | c.*32 others(28): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 155 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13665381 | C | CAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG01515.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0031 | a0001c0001t0012g0065 a0001c0001t0012g0078 a0001c0001t0012g0081 others(3): Show |
6 | 24 | 0.2500 | 17 | c.*10 others(28): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 4/4 | 1098 | chr18 | TogoVar | ||||||
FAM210A_chr18_13658347_13731558 | 13666662 | C | CCCACCCC others(10): Show |
frameshift_variant | HIGH | NA18968.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0187 | 1 | 324 | 0.0031 | 17 | c.636 others(24): Show |
p.Val others(5): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 4/4 | 894/4210 | 636/819 | 212/272 | chr18 | TogoVar | |||
FAM210A_chr18_13658347_13731558 | 13713725 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG01433.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0058 others(1): Show |
4 | 24 | 0.1667 | 17 | c.-29 others(36): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 1/3 | chr18 | TogoVar | |||||||
FAM220A_chr7_6324411_6353967 | 6348881 | C | CGGGCCGC others(10): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01928.hp1 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 others(1): Show |
4 | 418 | 0.0096 | 17 | c.-40 others(26): Show |
FAM220A | ENSG00000178397.13 | transcript | ENST00000313324.9 | protein_coding | 1/2 | 17728 | chr7 | TogoVar | ||||||
FAM221A_chr7_23675199_23707650 | 23690200 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0139 |
2 | 363 | 0.0055 | 17 | c.430 others(32): Show |
FAM221A | ENSG00000188732.11 | transcript | ENST00000344962.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28790884 | C | CATTTTTT others(10): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0260 | 1 | 13 | 0.0769 | 17 | c.-40 others(36): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28790884 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | 14 | 0.1429 | 17 | c.-40 others(36): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38613116 | T | TATATAAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0204 | 1 | 320 | 0.0031 | 17 | c.103 others(36): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 11/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0045 | a0001c0001t0003g0272 a0002c0004t0045g0207 |
2 | 149 | 0.0134 | 17 | c.727 others(32): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18960.hp1 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004a0002c0002t0024others(1): Show | a0001c0001t0003g0271 a0002c0002t0004g0209 a0002c0002t0024g0191 others(1): Show |
4 | 151 | 0.0265 | 17 | c.727 others(32): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18980.hp1 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0170 a0002c0002t0004g0182 a0002c0002t0004g0188 |
3 | 150 | 0.0200 | 17 | c.727 others(32): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19064.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0012a0002c0002t0025 | a0001c0007t0012g0158 a0002c0002t0025g0193 |
2 | 149 | 0.0134 | 17 | c.727 others(32): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49494290 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0283 | 1 | 292 | 0.0034 | 17 | c.101 others(38): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM228B_chr2_24118469_24174638 | 24155531 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 189 | 0.0053 | 17 | c.687 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24158196 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03471.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0229 a0001c0001t0001g0250 |
3 | 5 | 0.6000 | 17 | c.687 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 6 | 0.1667 | 17 | c.933 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 6 | 0.1667 | 17 | c.933 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01071.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0135 others(12): Show |
15 | 20 | 0.7500 | 17 | c.933 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0273 |
2 | 7 | 0.2857 | 17 | c.933 others(34): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
FAM236A_chrX_72933206_72943958 | 72943840 | G | GAGGAGGA others(10): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 158 | 0.0063 | 17 | c.*50 others(28): Show |
FAM236A | ENSG00000275520.2 | transcript | ENST00000611003.2 | protein_coding | 4883 | chrX | TogoVar | |||||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 9 | 0.2222 | 17 | c.*10 others(30): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | |||||||
FAM32A_chr19_16180410_16197046 | 16189668 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03139.hp1 HG03927.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0081 others(2): Show |
7 | 107 | 0.0654 | 17 | c.217 others(32): Show |
FAM32A | ENSG00000105058.12 | transcript | ENST00000263384.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FAM43B_chr1_20547573_20560020 | 20550649 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 13 | 0.1538 | 17 | c.-23 others(28): Show |
FAM43B | ENSG00000183114.8 | transcript | ENST00000332947.6 | protein_coding | 1923 | chr1 | TogoVar | |||||||
FAM47B_chrX_34937796_34949915 | 34940887 | T | TGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 329 | 0.0030 | 17 | c.-19 others(28): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1908 | chrX | TogoVar | |||||||
FAM50A_chrX_154439141_154455654 | 154448072 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01891.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0047 |
4 | 177 | 0.0226 | 17 | c.443 others(32): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAM53B_chr10_124614292_124749378 | 124615446 | G | GGTGATGC others(10): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 328 | 0.0030 | 17 | c.*77 others(28): Show |
FAM53B | ENSG00000189319.14 | transcript | ENST00000337318.8 | protein_coding | 3845 | chr10 | TogoVar | |||||||
FAM53B_chr10_124614292_124749378 | 124615584 | G | GGTGATGC others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(123): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0105 a0001c0001t0001g0246 a0001c0001t0002g0002 others(121): Show |
126 | 326 | 0.3865 | 17 | c.*76 others(28): Show |
FAM53B | ENSG00000189319.14 | transcript | ENST00000337318.8 | protein_coding | 3707 | chr10 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166094047 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 314 | 0.0032 | 17 | c.264 others(36): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM83A_chr8_123177665_123215078 | 123205331 | A | ATGCAGGC others(10): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 368 | 0.0027 | 17 | c.774 others(34): Show |
FAM83A | ENSG00000147689.17 | transcript | ENST00000690554.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM83E_chr19_48594961_48620076 | 48602704 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0001 | 1 | 199 | 0.0050 | 17 | c.117 others(34): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
FAM83G_chr17_18963789_19009764 | 18976187 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18946.hp1 NA18950.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0100 a0001c0001t0001g0117 a0003c0003t0001g0281 |
3 | 140 | 0.0214 | 17 | c.208 others(36): Show |
FAM83G | ENSG00000188522.16 | transcript | ENST00000388995.11 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
FAM86B1_chr8_12177106_12199082 | 12177738 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02148.hp1 NA18973.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0001 a0002c0003t0001g0006 a0002c0003t0001g0016 others(5): Show |
10 | 15 | 0.6667 | 17 | c.*58 others(28): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 4367 | chr8 | TogoVar | |||||||
FAM86B2_chr8_12419421_12441400 | 12420057 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0009 | a0009c0008 | a0009c0008t0012 | a0009c0008t0012g0009 | 1 | 14 | 0.0714 | 17 | c.*58 others(28): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4363 | chr8 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021495 | T | TTATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 252 | 0.0040 | 17 | c.*39 others(28): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2736 | chrX | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89742653 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19062.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0068 a0005c0005t0001g0186 |
2 | 213 | 0.0094 | 17 | c.376 others(34): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 37/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0232 | 1 | 14 | 0.0714 | 17 | c.285 others(34): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TTAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02895.hp1 HG02897.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0269 a0003c0003t0002g0279 a0003c0003t0002g0289 |
3 | 16 | 0.1875 | 17 | c.285 others(34): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89812646 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01516.hp2 HG01993.hp2 others(4): Show |
a0003a0009a0010others(1): Show | a0003c0003a0009c0010a0010c0011others(1): Show | a0003c0003t0002a0009c0010t0002a0010c0011t0002others(1): Show | a0003c0003t0002g0238 a0003c0003t0002g0274 a0003c0003t0002g0285 others(4): Show |
7 | 231 | 0.0303 | 17 | c.284 others(34): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3/42 | chr16 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95271927 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0145 a0001c0001t0022g0164 |
2 | 93 | 0.0215 | 17 | c.-78 others(36): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG03041.hp2 others(3): Show |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0003a0002c0002t0002 | a0001c0011t0003g0235 a0002c0002t0002g0181 a0002c0002t0002g0182 others(3): Show |
6 | 142 | 0.0423 | 17 | c.439 others(32): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10069260 | A | ACAAGGGA others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02258.hp2 others(13): Show |
a0001a0003a0007others(2): Show | a0001c0016a0003c0004a0007c0007others(2): Show | a0001c0016t0003a0003c0004t0003a0007c0007t0003others(2): Show | a0001c0016t0003g0122 a0003c0004t0003g0156 a0003c0004t0003g0157 others(13): Show |
16 | 240 | 0.0667 | 17 | c.249 others(36): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 26/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89253543 | A | ATAAATAA others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0296 | 1 | 230 | 0.0043 | 17 | c.85- others(32): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89286977 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01346.hp2 HG02818.hp1 others(5): Show |
a0001a0014 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0011others(2): Show | a0001c0001t0001g0016 a0001c0003t0003g0018 a0001c0003t0003g0296 others(5): Show |
8 | 16 | 0.5000 | 17 | c.182 others(36): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217174 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 388 | 0.0026 | 17 | c.374 others(34): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125906515 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0258 others(9): Show |
12 | 157 | 0.0764 | 17 | c.13+ others(32): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125918585 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0130 a0001c0001t0002g0204 |
2 | 242 | 0.0083 | 17 | c.13+ others(34): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125918585 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 241 | 0.0041 | 17 | c.13+ others(34): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |