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 | 68581350 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01433.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0008others(1): Show | a0001c0001t0005a0002c0003t0001a0002c0008t0001others(1): Show | a0001c0001t0005g0354 a0002c0003t0001g0340 a0002c0008t0001g0032 others(1): Show |
4 | 76 | 0.0526 | 32 | c.404 others(51): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13713725 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0057 | 1 | 21 | 0.0476 | 32 | c.-29 others(51): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 1/3 | chr18 | TogoVar | |||||||
FAM222A_chr12_109708825_109775495 | 109755414 | T | TGCCTCCC others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02080.hp2 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0019 | a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0117 others(5): Show |
8 | 364 | 0.0220 | 32 | c.82+ others(49): Show |
FAM222A | ENSG00000139438.6 | transcript | ENST00000538780.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18950.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0234 a0001c0002t0003g0181 |
2 | 98 | 0.0204 | 32 | c.-40 others(51): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 a0001c0002t0002g0161 |
2 | 98 | 0.0204 | 32 | c.-40 others(51): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38613312 | C | CATATAAT others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01891.hp2 others(40): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0005 | a0002c0002t0004a0002c0002t0011a0002c0002t0014others(8): Show | a0002c0002t0004g0170 a0002c0002t0004g0171 a0002c0002t0004g0177 others(39): Show |
43 | 215 | 0.2000 | 32 | c.103 others(51): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 11/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 148 | 0.0068 | 32 | c.727 others(47): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49422118 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 280 | 0.0036 | 32 | c.101 others(53): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166094003 | C | CTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 150 | 0.0067 | 32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109882 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0199 | 1 | 231 | 0.0043 | 32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109882 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19003.hp1 NA19060.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0203 a0001c0002t0003g0010 a0001c0002t0003g0204 others(2): Show |
5 | 235 | 0.0213 | 32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109882 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195 | 1 | 231 | 0.0043 | 32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109882 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 231 | 0.0043 | 32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM86B2_chr8_12419421_12441400 | 12424721 | T | TGGGTTGT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(19): Show |
a0002a0004a0007others(6): Show | a0002c0002a0002c0007a0004c0004others(10): Show | a0002c0002t0002a0002c0002t0004a0002c0007t0002others(12): Show | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(17): Show |
22 | 49 | 0.4490 | 32 | c.*11 others(43): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1167 | chr8 | TogoVar | ||||||
FAM91A1_chr8_123763439_123820452 | 123792067 | C | CGGGAGGC others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0196 | 1 | 336 | 0.0030 | 32 | c.141 others(51): Show |
FAM91A1 | ENSG00000176853.16 | transcript | ENST00000334705.12 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021333 | T | TTATATTA others(25): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 251 | 0.0040 | 32 | c.*40 others(43): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2898 | chrX | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10069493 | C | CTCCCCCT others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0155 | 1 | 160 | 0.0063 | 32 | c.249 others(51): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 26/43 | chr3 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125991250 | G | GGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0132 |
2 | 36 | 0.0556 | 32 | c.316 others(49): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29308707 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 260 | 0.0038 | 32 | c.724 others(47): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29331331 | A | AGAGAGAT others(25): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0087 | 1 | 324 | 0.0031 | 32 | c.125 others(51): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98256948 | G | GGTATATA others(25): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 31 | 0.0323 | 32 | c.171 others(51): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0134 | 1 | 5 | 0.2000 | 32 | c.141 others(51): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366125 | A | ACACGTAT others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 97 | 0.0103 | 32 | c.-24 others(49): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241366125 | A | ATACGTAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01123.hp1 others(30): Show |
a0001a0003a0008others(2): Show | a0001c0003a0003c0005a0008c0013others(2): Show | a0001c0003t0001a0001c0003t0008a0003c0005t0001others(3): Show | a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 others(30): Show |
33 | 129 | 0.2558 | 32 | c.-24 others(49): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366127 | A | ACGTATAT others(25): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 366 | 0.0027 | 32 | c.-24 others(49): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
FARS2_chr6_5256513_5776583 | 5315716 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0148 a0001c0005t0001g0002 |
2 | 126 | 0.0159 | 32 | c.-21 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5315726 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 a0001c0001t0002g0144 |
2 | 141 | 0.0142 | 32 | c.-21 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341235 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0011 | 1 | 64 | 0.0156 | 32 | c.-21 others(51): 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(25): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18964.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0002g0146 |
3 | 92 | 0.0326 | 32 | c.772 others(49): 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(25): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18999.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 a0002c0002t0001g0061 |
2 | 107 | 0.0187 | 32 | c.772 others(49): 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(25): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 59 | 0.0169 | 32 | c.905 others(49): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 59 | 0.0169 | 32 | c.905 others(49): 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(25): Show |
intron_variant | MODIFIER | HG04115.hp1 HG04204.hp1 NA18963.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0073 others(3): Show |
6 | 64 | 0.0938 | 32 | c.905 others(49): 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(25): Show |
intron_variant | MODIFIER | HG02451.hp1 HG04199.hp2 HG04228.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0075 a0001c0001t0002g0129 a0002c0002t0001g0022 |
3 | 20 | 0.1500 | 32 | c.106 others(53): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717933 | T | TGGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01257.hp2 HG01258.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0002a0004c0012t0002 | a0001c0001t0002g0152 a0001c0001t0002g0153 a0004c0012t0002g0151 |
3 | 123 | 0.0244 | 32 | c.121 others(53): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TATAGAGA others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 85 | 0.0118 | 32 | c.121 others(53): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARSB_chr2_222561899_222661092 | 222605161 | T | TTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0313 | 1 | 76 | 0.0132 | 32 | c.146 others(51): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 15/16 | chr2 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186594676 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0010 | a0010c0010 | a0010c0010t0010 | a0010c0010t0010g0183 | 1 | 124 | 0.0081 | 32 | c.131 others(53): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 26/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186682526 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0063 | a0063c0109 | a0063c0109t0048 | a0063c0109t0048g0116 | 1 | 87 | 0.0115 | 32 | c.326 others(53): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534968 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02698.hp1 |
a0011a0012 | a0011c0137a0012c0018 | a0011c0137t0003a0012c0018t0003 | a0011c0137t0003g0031 a0012c0018t0003g0178 |
2 | 393 | 0.0051 | 32 | c.919 others(49): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534970 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03704.hp2 HG03710.hp2 others(3): Show |
a0001a0002a0022 | a0001c0003a0001c0048a0001c0049others(3): Show | a0001c0003t0001a0001c0048t0017a0001c0049t0001others(3): Show | a0001c0003t0001g0288 a0001c0048t0017g0025 a0001c0049t0001g0030 others(3): Show |
6 | 46 | 0.1304 | 32 | c.919 others(49): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0034 | a0034c0033 | a0034c0033t0044 | a0034c0033t0044g0054 | 1 | 23 | 0.0435 | 32 | c.329 others(53): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92553675 | C | CCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0026 | a0026c0061 | a0026c0061t0001 | a0026c0061t0001g0042 | 1 | 38 | 0.0263 | 32 | c.360 others(53): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0045 | a0045c0016 | a0045c0016t0030 | a0045c0016t0030g0040 | 1 | 59 | 0.0169 | 32 | c.367 others(51): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45554966 | T | TACAGGAA others(25): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03098.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0013 a0001c0001t0001g0176 a0001c0001t0001g0177 others(3): Show |
6 | 334 | 0.0180 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45554967 | A | ACAGGAAG others(25): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 344 | 0.0029 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45554977 | A | AGGACCCG others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0007a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0007g0103 a0001c0001t0009g0279 a0001c0002t0001g0203 others(2): Show |
5 | 344 | 0.0145 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45554999 | A | ACAGGAAG others(25): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 307 | 0.0033 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45554999 | A | ACAGGAGG others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0329 | 1 | 307 | 0.0033 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45555005 | A | AGTTAGGA others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(143): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 others(143): Show |
146 | 319 | 0.4577 | 32 | c.169 others(51): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |