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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0223 | 1 | 97 | 0.0103 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 97 | 0.0103 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0236 | 1 | 97 | 0.0103 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0195 | 1 | 97 | 0.0103 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778720 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0203 | 1 | 264 | 0.0038 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28784491 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 16 | 0.0625 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28790884 | C | CATTTTTT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | 14 | 0.1429 | 23 | c.-40 others(42): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0214 a0001c0001t0009g0215 |
2 | 149 | 0.0134 | 23 | c.727 others(38): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38626891 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0176 | 1 | 148 | 0.0068 | 23 | c.727 others(38): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49371733 | T | TGAAATAA others(16): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 166 | 0.0060 | 23 | c.101 others(40): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM228B_chr2_24118469_24174638 | 24152536 | G | GTATTGCC others(16): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 288 | 0.0035 | 23 | c.686 others(40): 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(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 3 | 0.3333 | 23 | c.687 others(40): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 others(2): Show |
5 | 10 | 0.5000 | 23 | c.933 others(40): 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(16): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 6 | 0.1667 | 23 | c.933 others(40): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
FAM229B_chr6_112082591_112107790 | 112097570 | T | TTGTGTAC others(16): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025 | 2 | 416 | 0.0048 | 23 | c.-15 others(38): Show |
FAM229B | ENSG00000203778.8 | transcript | ENST00000368656.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 8 | 0.1250 | 23 | c.*10 others(36): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | |||||||
FAM3A_chrX_154501171_154521232 | 154519971 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 336 | 0.0030 | 23 | c.-42 others(34): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 3740 | chrX | TogoVar | |||||||
FAM43B_chr1_20547573_20560020 | 20550649 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01358.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 14 | 0.2143 | 23 | c.-23 others(34): Show |
FAM43B | ENSG00000183114.8 | transcript | ENST00000332947.6 | protein_coding | 1923 | chr1 | TogoVar | |||||||
FAM47E_chr4_76246721_76288783 | 76282038 | A | AACATTTG others(16): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 2 | 290 | 0.0069 | 23 | c.110 others(42): Show |
FAM47E | ENSG00000189157.14 | transcript | ENST00000424749.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1656394 | T | TGGCTTGT others(16): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0189 a0001c0002t0004g0194 |
2 | 348 | 0.0057 | 23 | c.137 others(38): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
FAM90A1_chr12_8216260_8232618 | 8226802 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0185 | 1 | 351 | 0.0028 | 23 | c.-42 others(40): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022677 | T | TTATATTA others(16): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
2 | 245 | 0.0082 | 23 | c.*27 others(34): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1554 | chrX | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89771155 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0007 | a0006c0007t0009 | a0006c0007t0009g0314 | 1 | 272 | 0.0037 | 23 | c.215 others(40): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 23/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89812646 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0011 | 1 | 225 | 0.0044 | 23 | c.284 others(40): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3/42 | chr16 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95158402 | G | GCACTATG others(16): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 276 | 0.0036 | 23 | c.522 others(40): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 6/14 | chr9 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95278794 | A | ATTAAGCG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0049 others(237): Show |
240 | 267 | 0.8989 | 23 | c.-78 others(42): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95278794 | A | ATTAAGCG others(16): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18940.hp2 NA18963.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(6): Show |
9 | 36 | 0.2500 | 23 | c.-78 others(42): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18953.hp1 NA18961.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0005g0177 |
3 | 139 | 0.0216 | 23 | c.439 others(38): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89286977 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0107 | 1 | 9 | 0.1111 | 23 | c.182 others(42): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02109.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 others(7): Show |
10 | 37 | 0.2703 | 23 | c.13+ others(40): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0023others(11): Show | a0001c0001t0005g0164 a0001c0001t0007g0183 a0001c0001t0023g0003 others(17): Show |
20 | 24 | 0.8333 | 23 | c.141 others(42): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | chr13 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241402881 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 352 | 0.0028 | 23 | c.184 others(38): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
FARSA_chr19_12917479_12938711 | 12920125 | A | ACACACAC others(16): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 138 | 0.0145 | 23 | c.*26 others(34): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2353 | chr19 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92229492 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0044 | a0044c0080 | a0044c0080t0042 | a0044c0080t0042g0084 | 1 | 73 | 0.0137 | 23 | c.-18 others(40): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478953 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02698.hp2 HG03453.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0003a0002c0031others(4): Show | a0001c0002t0080a0002c0003t0077a0002c0031t0007others(4): Show | a0001c0002t0080g0003 a0002c0003t0077g0008 a0002c0031t0007g0028 others(4): Show |
7 | 83 | 0.0843 | 23 | c.329 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92486130 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0035 | a0001c0035t0032 | a0001c0035t0032g0068 | 1 | 11 | 0.0909 | 23 | c.329 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92551414 | T | TTGTTTTG others(16): Show |
intron_variant | MODIFIER | HG01074.hp2 NA20300.hp2 |
a0015a0048 | a0015c0059a0048c0058 | a0015c0059t0088a0048c0058t0043 | a0015c0059t0088g0015 a0048c0058t0043g0082 |
2 | 18 | 0.1111 | 23 | c.360 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92583866 | A | ATTCTCTC others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0008 | a0008c0007 | a0008c0007t0004 | a0008c0007t0004g0071 | 1 | 116 | 0.0086 | 23 | c.360 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02615.hp1 |
a0004a0023 | a0004c0012a0023c0075 | a0004c0012t0004a0023c0075t0063 | a0004c0012t0004g0033 a0023c0075t0063g0102 |
2 | 28 | 0.0714 | 23 | c.367 others(42): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92878634 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0007 | a0007c0077 | a0007c0077t0057 | a0007c0077t0057g0081 | 1 | 69 | 0.0145 | 23 | c.121 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0155 others(8): Show |
11 | 47 | 0.2340 | 23 | c.367 others(40): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 a0001c0001t0002g0269 |
2 | 136 | 0.0147 | 23 | c.49- others(36): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
FBF1_chr17_75904574_75946042 | 75907506 | G | GTATTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG03225.hp2 |
a0009a0016 | a0009c0018a0016c0025 | a0009c0018t0001a0016c0025t0011 | a0009c0018t0001g0056 a0009c0018t0001g0119 a0016c0025t0011g0244 |
3 | 202 | 0.0149 | 23 | c.*32 others(34): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 2067 | chr17 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 56 | 0.0179 | 23 | c.*23 others(34): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13612340 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG03195.hp1 HG04204.hp2 |
a0002a0005 | a0002c0029a0005c0018 | a0002c0029t0005a0005c0018t0009 | a0002c0029t0005g0192 a0005c0018t0009g0012 |
2 | 306 | 0.0065 | 23 | c.154 others(42): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03490.hp1 NA18983.hp2 |
a0001a0002 | a0001c0004a0001c0005a0002c0001 | a0001c0004t0001a0001c0005t0003a0002c0001t0002 | a0001c0004t0001g0233 a0001c0005t0003g0050 a0002c0001t0002g0113 |
3 | 22 | 0.1364 | 23 | c.321 others(42): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112134887 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(33): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0028 others(30): Show |
36 | 132 | 0.2727 | 23 | c.-37 others(34): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3497 | chr2 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48417469 | T | TTCCTTCC others(16): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18975.hp1 NA18982.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0050 a0001c0004t0004g0061 a0001c0004t0004g0063 others(2): Show |
5 | 258 | 0.0194 | 23 | c.782 others(42): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568046 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0166 | 1 | 279 | 0.0036 | 23 | c.538 others(42): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 153 | 0.0065 | 23 | c.538 others(42): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar |