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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0054 | a0001c0001t0007g0124 a0001c0001t0054g0107 |
2 | 9 | 0.2222 | 26 | c.*10 others(39): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | |||||||
FAM3C_chr7_121343878_121401308 | 121380733 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01975.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0040 a0001c0001t0004g0016 a0001c0001t0004g0034 |
4 | 186 | 0.0215 | 26 | c.14- others(41): Show |
FAM3C | ENSG00000196937.11 | transcript | ENST00000359943.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
FAM47B_chrX_34937796_34949915 | 34940858 | T | TTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 HG04184.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
3 | 107 | 0.0280 | 26 | c.-19 others(37): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1937 | chrX | TogoVar | |||||||
FAM53B_chr10_124614292_124749378 | 124657177 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 234 | 0.0043 | 26 | c.906 others(45): Show |
FAM53B | ENSG00000189319.14 | transcript | ENST00000337318.8 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166084237 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 218 | 0.0046 | 26 | c.264 others(45): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166094003 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0084 a0001c0001t0001g0232 a0001c0001t0001g0233 others(7): Show |
10 | 159 | 0.0629 | 26 | c.264 others(45): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109882 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0207 | 1 | 231 | 0.0043 | 26 | c.264 others(45): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM81B_chr5_95386366_95455441 | 95439236 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 a0001c0001t0002g0319 |
2 | 55 | 0.0364 | 26 | c.893 others(43): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM83A_chr8_123177665_123215078 | 123200984 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0136 | 1 | 368 | 0.0027 | 26 | c.774 others(43): Show |
FAM83A | ENSG00000147689.17 | transcript | ENST00000690554.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAM83B_chr6_54841771_54950099 | 54863555 | G | GACTTTTG others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0012a0001c0013others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0014others(21): Show | a0001c0002t0001g0157 a0001c0002t0001g0230 a0001c0002t0002g0029 others(120): Show |
124 | 270 | 0.4593 | 26 | c.-60 others(43): Show |
FAM83B | ENSG00000168143.9 | transcript | ENST00000306858.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602704 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0094 | 1 | 199 | 0.0050 | 26 | c.117 others(43): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
FAM90A1_chr12_8216260_8232618 | 8226802 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0004 | a0004c0004t0021 | a0004c0004t0021g0174 | 1 | 351 | 0.0028 | 26 | c.-42 others(43): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022235 | T | TATATATT others(19): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 253 | 0.0040 | 26 | c.*31 others(37): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1996 | chrX | TogoVar | |||||||
FAN1_chr15_30898915_30948108 | 30929739 | T | TCATATAT others(19): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 255 | 0.0039 | 26 | c.278 others(43): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0229 | 1 | 14 | 0.0714 | 26 | c.285 others(43): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89820339 | T | TGAGGCGG others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(195): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0026a0001c0029others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0025 others(193): Show |
198 | 332 | 0.5964 | 26 | c.-37 others(37): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3693 | chr16 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95271927 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 92 | 0.0109 | 26 | c.-78 others(45): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0229 a0002c0002t0005g0228 |
2 | 138 | 0.0145 | 26 | c.439 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125914280 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(4): Show |
7 | 215 | 0.0326 | 26 | c.13+ others(43): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02896.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156 a0001c0001t0001g0194 a0001c0001t0001g0198 others(2): Show |
5 | 32 | 0.1563 | 26 | c.13+ others(43): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125991250 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 35 | 0.0286 | 26 | c.316 others(43): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29151355 | A | AATGCATA others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03041.hp1 HG03139.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 |
3 | 324 | 0.0093 | 26 | c.-39 others(43): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29151358 | G | GCATACAT others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0233 a0001c0001t0002g0230 a0001c0002t0002g0231 others(1): Show |
4 | 324 | 0.0123 | 26 | c.-39 others(43): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29308709 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0261 | 1 | 247 | 0.0040 | 26 | c.724 others(41): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98256948 | G | GGTATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0002 | a0001c0002t0012g0200 a0001c0004t0002g0132 |
2 | 32 | 0.0625 | 26 | c.171 others(45): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98277109 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0055others(2): Show | a0001c0001t0004g0179 a0001c0001t0005g0042 a0001c0001t0055g0074 others(2): Show |
5 | 41 | 0.1220 | 26 | c.171 others(45): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01192.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(18): Show | a0001c0001t0003g0044 a0001c0001t0004g0011 a0001c0001t0011g0120 others(19): Show |
22 | 26 | 0.8462 | 26 | c.141 others(45): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02886.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0009a0001c0002t0032 | a0001c0001t0015g0080 a0001c0002t0009g0173 a0001c0002t0032g0218 |
3 | 7 | 0.4286 | 26 | c.141 others(45): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366106 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp2 others(21): Show |
a0001a0007a0020 | a0001c0001a0007c0021a0020c0016 | a0001c0001t0001a0007c0021t0003a0020c0016t0001 | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 others(21): Show |
24 | 372 | 0.0645 | 26 | c.-24 others(43): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366125 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 97 | 0.0103 | 26 | c.-24 others(43): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366125 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(11): Show | a0001c0001t0001g0378 a0001c0001t0002g0372 a0001c0001t0002g0373 others(66): Show |
69 | 165 | 0.4182 | 26 | c.-24 others(43): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241402880 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0105 | 1 | 219 | 0.0046 | 26 | c.184 others(41): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5365317 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 39 | 0.0256 | 26 | c.-21 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5407043 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01993.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0002g0112 others(3): Show |
6 | 95 | 0.0632 | 26 | c.772 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5407066 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03098.hp2 HG04228.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0002g0124 a0002c0002t0001g0043 |
3 | 108 | 0.0278 | 26 | c.772 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0004 a0001c0001t0002g0103 a0001c0001t0002g0116 others(1): Show |
4 | 62 | 0.0645 | 26 | c.905 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18950.hp2 NA18970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0016 a0001c0001t0002g0139 a0001c0003t0004g0041 |
3 | 61 | 0.0492 | 26 | c.905 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539396 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 160 | 0.0063 | 26 | c.905 others(43): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5584108 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02280.hp1 HG03834.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0074 others(4): Show |
7 | 24 | 0.2917 | 26 | c.106 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717927 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 a0001c0001t0002g0127 |
2 | 162 | 0.0123 | 26 | c.121 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717929 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0003c0011t0001 | a0001c0001t0002g0100 a0003c0011t0001g0012 |
2 | 142 | 0.0141 | 26 | c.121 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717931 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0005c0009t0002 | a0001c0001t0002g0101 a0005c0009t0002g0097 |
2 | 131 | 0.0153 | 26 | c.121 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717933 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0002g0169 |
3 | 123 | 0.0244 | 26 | c.121 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TAGAGAGA others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 85 | 0.0118 | 26 | c.121 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARSA_chr19_12917479_12938711 | 12920096 | T | TATACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 233 | 0.0043 | 26 | c.*26 others(37): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2382 | chr19 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561849 | T | TAATTTAT others(19): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 389 | 0.0026 | 26 | c.573 others(43): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561944 | A | AAATTATT others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(89): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0194 others(79): Show |
92 | 345 | 0.2667 | 26 | c.573 others(43): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561952 | T | TATTAATT others(19): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02895.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0130 a0002c0003t0001g0133 a0002c0003t0001g0137 others(4): Show |
7 | 386 | 0.0181 | 26 | c.573 others(43): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561952 | T | TGTTAATT others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 380 | 0.0026 | 26 | c.573 others(43): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169562021 | T | TTAATTAT others(19): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19007.hp1 NA19011.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0281 a0003c0005t0001g0291 a0003c0005t0001g0292 others(1): Show |
4 | 390 | 0.0103 | 26 | c.572 others(43): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar |