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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0012g0071a0001c0001t0012g0085a0001c0001t0012g0087others(3): Show | 6 | 326 | 0.0184 | 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 | a0003c0005t0001g0189 | 1 | 326 | 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 | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0004g0064others(1): Show | 4 | 326 | 0.0123 | 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 | a0001c0001t0006g0027a0001c0001t0006g0028a0001c0001t0006g0029others(1): Show | 4 | 420 | 0.0095 | 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 | a0001c0001t0001g0229a0001c0001t0001g0231 | 2 | 410 | 0.0049 | 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 | 276 | 0.0036 | 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 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | 276 | 0.0073 | 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 | a0002c0002t0049 | a0002c0002t0049g0207 | 1 | 328 | 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 | a0001c0001t0002a0002c0004t0046 | a0001c0001t0002g0275a0002c0004t0046g0210 | 2 | 328 | 0.0061 | 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 | a0001c0001t0002a0002c0002t0004a0002c0002t0025others(1): Show | a0001c0001t0002g0274a0002c0002t0004g0211a0002c0002t0025g0194others(1): Show | 4 | 328 | 0.0122 | 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 | a0002c0002t0004g0171a0002c0002t0004g0183a0002c0002t0004g0201 | 3 | 328 | 0.0092 | 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 | a0001c0007t0013a0002c0002t0026 | a0001c0007t0013g0157a0002c0002t0026g0195 | 2 | 328 | 0.0061 | 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 | 294 | 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 | 290 | 0.0035 | 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 | a0001c0001t0001g0083a0001c0001t0001g0233a0001c0001t0001g0254 | 3 | 290 | 0.0103 | 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 | a0001c0001t0001g0258 | 1 | 290 | 0.0035 | 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 | a0001c0001t0001g0130 | 1 | 290 | 0.0035 | 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 | a0001c0001t0001g0078a0001c0001t0001g0122a0001c0001t0001g0137others(12): Show | 15 | 290 | 0.0517 | 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 | a0001c0001t0001g0263a0001c0001t0001g0280 | 2 | 290 | 0.0069 | 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 | 388 | 0.0052 | 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 | a0001c0001t0001g0028a0001c0001t0001g0050a0001c0001t0001g0081others(2): Show | 7 | 412 | 0.0170 | 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 | 464 | 0.0043 | 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 | 331 | 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 | a0001c0001t0001g0013a0001c0001t0002g0054 | 4 | 275 | 0.0146 | 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 | a0001c0001t0001g0216 | 1 | 330 | 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 |
a0001a0005 | a0001c0001a0001c0009a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0104a0001c0001t0001g0245a0001c0001t0002g0003others(121): Show | 126 | 330 | 0.3818 | 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 | a0001c0001t0002g0275 | 1 | 318 | 0.0031 | 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 | a0001c0001t0001g0159 | 1 | 370 | 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 | a0003c0002t0001g0081 | 1 | 414 | 0.0024 | 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 | a0001c0001t0001g0100a0001c0001t0001g0118a0003c0003t0001g0282 | 3 | 378 | 0.0079 | 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 | a0002c0002t0001g0001a0002c0003t0001g0005a0002c0003t0001g0013others(5): Show | 10 | 176 | 0.0568 | 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 | a0008 | a0008c0008 | a0008c0008t0012 | a0008c0008t0012g0009 | 1 | 50 | 0.0200 | 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 | a0001c0001t0001g0022 | 1 | 258 | 0.0039 | 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 | a0005c0005t0001g0067a0005c0005t0001g0188 | 2 | 334 | 0.0060 | 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 | a0004c0004t0002g0233 | 1 | 334 | 0.0030 | 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 | a0003c0003t0002g0270a0003c0003t0002g0280a0003c0003t0002g0290 | 3 | 334 | 0.0090 | 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 | a0003c0003t0002g0239a0003c0003t0002g0275a0003c0003t0002g0286others(4): Show | 7 | 334 | 0.0210 | 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 | a0001c0001t0002g0143a0001c0001t0022g0165 | 2 | 278 | 0.0072 | 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 | a0001c0011t0003g0239a0002c0002t0002g0185a0002c0002t0002g0186others(3): Show | 6 | 242 | 0.0248 | 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 | a0001c0016t0003g0122a0003c0004t0003g0160a0003c0004t0003g0161others(13): Show | 16 | 242 | 0.0661 | 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 | a0001c0003t0003g0298 | 1 | 346 | 0.0029 | 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 | a0001c0001t0001g0021a0001c0003t0003g0200a0001c0003t0003g0298others(5): Show | 8 | 346 | 0.0231 | 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 | a0001c0001t0001g0098 | 1 | 390 | 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 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0001t0001g0258others(9): Show | 12 | 370 | 0.0324 | 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 | a0001c0001t0001g0130a0001c0001t0002g0204 | 2 | 370 | 0.0054 | 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 | 370 | 0.0027 | 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 | 125991278 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 370 | 0.0027 | 17 | c.316 others(34): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98151660 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02738.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0006a0001c0002t0008 | a0001c0001t0015g0154a0001c0002t0006g0119a0001c0002t0008g0113 | 3 | 218 | 0.0138 | 17 | c.-24 others(34): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98277149 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0107 | 1 | 218 | 0.0046 | 17 | c.171 others(36): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar |