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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM222B_chr17_28750980_28847790 | 28790883 | A | AAATTTTT others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 276 | 0.0036 | 25 | c.-40 others(44): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
FAM222B_chr17_28750980_28847790 | 28790884 | C | CATTTTTT others(18): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0264a0001c0001t0005g0143 | 2 | 276 | 0.0073 | 25 | c.-40 others(44): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38613260 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02559.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017a0001c0001t0006g0023a0001c0001t0006g0024others(1): Show | 4 | 328 | 0.0122 | 25 | c.103 others(44): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 11/16 | chr22 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49371940 | A | AAATGAAA others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0190a0001c0001t0006g0268a0001c0001t0012g0158others(6): Show | 9 | 294 | 0.0306 | 25 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49371966 | A | AAATGAAA others(18): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG02040.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010 | a0001c0001t0003g0225a0001c0001t0003g0226a0001c0001t0003g0240others(7): Show | 10 | 294 | 0.0340 | 25 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG03492.hp1 NA20805.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0012a0002c0007t0001g0027 | 2 | 290 | 0.0069 | 25 | c.933 others(42): 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(18): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03710.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0016a0002c0007t0001g0018 | 2 | 290 | 0.0069 | 25 | c.933 others(42): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
FAM236B_chrX_72776865_72787660 | 72776950 | T | TTCCTCCT others(18): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 110 | 0.0091 | 25 | c.*50 others(36): Show |
FAM236B | ENSG00000268994.3 | transcript | ENST00000596535.3 | protein_coding | 4914 | chrX | TogoVar | ||||||
FAM237A_chr2_206637487_206654365 | 206646224 | A | ACCCGGGA others(18): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 464 | 0.0022 | 25 | c.412 others(42): Show |
FAM237A | ENSG00000235118.9 | transcript | ENST00000441223.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0106 | 1 | 388 | 0.0026 | 25 | c.*10 others(38): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | ||||||
FAM32A_chr19_16180410_16197046 | 16189668 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 412 | 0.0024 | 25 | c.217 others(40): Show |
FAM32A | ENSG00000105058.12 | transcript | ENST00000263384.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FAM53A_chr4_1634887_1689313 | 1649908 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 |
a0005 | a0005c0006 | a0005c0006t0038a0005c0006t0061 | a0005c0006t0038g0011a0005c0006t0061g0142 | 2 | 350 | 0.0057 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1649937 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0049 | 1 | 350 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1649995 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0049 | 1 | 350 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1650053 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0069 | 1 | 350 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166094047 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 318 | 0.0031 | 25 | c.264 others(44): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602704 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0105 | 1 | 414 | 0.0024 | 25 | c.117 others(42): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48616643 | C | CCAGCACA others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01433.hp1 HG02027.hp1 others(9): Show |
a0001a0003a0004 | a0001c0003a0003c0002a0004c0006 | a0001c0003t0014a0003c0002t0001a0003c0002t0002others(2): Show | a0001c0003t0014g0100a0003c0002t0001g0067a0003c0002t0001g0070others(9): Show | 12 | 414 | 0.0290 | 25 | c.-31 others(36): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 1568 | chr19 | TogoVar | ||||||
FAM83F_chr22_39989954_40048534 | 40004267 | A | AATTTTAT others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02698.hp1 HG02698.hp2 others(4): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0120a0001c0001t0003g0104a0001c0001t0003g0119others(4): Show | 7 | 234 | 0.0299 | 25 | c.489 others(42): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAN1_chr15_30898915_30948108 | 30929655 | A | ATGAAATA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0191 | 1 | 303 | 0.0033 | 25 | c.278 others(42): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929819 | T | TCATATAT others(18): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 303 | 0.0033 | 25 | c.278 others(42): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0248 | 1 | 334 | 0.0030 | 25 | c.285 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TTAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0255 | 1 | 334 | 0.0030 | 25 | c.285 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89771155 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG02615.hp2 |
a0006a0041 | a0006c0007a0041c0049 | a0006c0007t0004a0041c0049t0004 | a0006c0007t0004g0313a0006c0007t0004g0317a0041c0049t0004g0207 | 3 | 334 | 0.0090 | 25 | c.215 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 23/42 | chr16 | TogoVar | ||||||
FANCC_chr9_95094054_95322709 | 95155257 | G | GAGGGGAG others(18): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 278 | 0.0036 | 25 | c.522 others(42): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 6/14 | chr9 | TogoVar | ||||||
FANCC_chr9_95094054_95322709 | 95271927 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166a0001c0001t0002g0278 | 2 | 278 | 0.0072 | 25 | c.-78 others(44): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG02738.hp1 |
a0002 | a0002c0002a0002c0012 | a0002c0002t0002a0002c0012t0005 | a0002c0002t0002g0229a0002c0002t0002g0232a0002c0012t0005g0194 | 3 | 242 | 0.0124 | 25 | c.439 others(40): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0054a0001c0001t0001g0095others(8): Show | 11 | 370 | 0.0297 | 25 | c.13+ others(42): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98277149 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0116 | 1 | 218 | 0.0046 | 25 | c.171 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01943.hp2 HG02055.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0015others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0045a0001c0001t0004g0145a0001c0001t0005g0082others(6): Show | 9 | 218 | 0.0413 | 25 | c.141 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98433775 | G | GTCCTGGC others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0211 | 1 | 218 | 0.0046 | 25 | c.214 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5338790 | A | ACCCCCCC others(18): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 170 | 0.0059 | 25 | c.-21 others(44): 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(18): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 170 | 0.0059 | 25 | c.-21 others(44): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5486998 | A | ACCGTCTA others(18): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 170 | 0.0059 | 25 | c.904 others(44): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FASTK_chr7_151071624_151085809 | 151073289 | T | TTATTTTA others(18): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 420 | 0.0024 | 25 | c.*34 others(36): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 3334 | chr7 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610685 | A | ATTATATA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(43): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0020a0001c0072others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0020t0002others(20): Show | a0001c0001t0002g0130a0001c0001t0002g0154a0001c0001t0002g0163others(43): Show | 46 | 338 | 0.1361 | 25 | c.985 others(42): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610726 | A | AAATATAA others(18): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18948.hp2 |
a0015a0054 | a0015c0012a0054c0059 | a0015c0012t0005a0054c0059t0008 | a0015c0012t0005g0036a0054c0059t0008g0039 | 2 | 338 | 0.0059 | 25 | c.985 others(42): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0038 | a0002c0001t0038g0032 | 1 | 118 | 0.0085 | 25 | c.329 others(46): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0007 | a0007c0038 | a0007c0038t0057 | a0007c0038t0057g0112 | 1 | 118 | 0.0085 | 25 | c.367 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125423282 | G | GAAGTCCT others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01081.hp1 others(17): Show |
a0003a0005a0023 | a0003c0003a0003c0025a0005c0004others(3): Show | a0003c0003t0002a0003c0025t0004a0005c0004t0002others(4): Show | a0003c0003t0002g0290a0003c0025t0004g0011a0005c0004t0002g0079others(17): Show | 20 | 320 | 0.0625 | 25 | c.701 others(44): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276a0001c0001t0002g0278 | 2 | 310 | 0.0065 | 25 | c.49- others(38): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | ||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0013 | a0002c0013t0010 | a0002c0013t0010g0075 | 1 | 354 | 0.0028 | 25 | c.*33 others(36): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03516.hp2 NA19062.hp2 |
a0001a0003 | a0001c0001a0001c0006a0003c0026 | a0001c0001t0001a0001c0006t0001a0003c0026t0001 | a0001c0001t0001g0122a0001c0006t0001g0313a0003c0026t0001g0003 | 3 | 346 | 0.0087 | 25 | c.*23 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 |
a0003a0004 | a0003c0024a0004c0013 | a0003c0024t0001a0004c0013t0001 | a0003c0024t0001g0091a0004c0013t0001g0301 | 2 | 312 | 0.0064 | 25 | c.321 others(44): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112134887 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00673.hp1 others(16): Show |
a0001a0010 | a0001c0001a0010c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0014others(16): Show | 19 | 346 | 0.0549 | 25 | c.-37 others(36): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3497 | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0101a0001c0001t0001g0120others(12): Show | 16 | 346 | 0.0462 | 25 | c.406 others(42): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBN2_chr5_128252909_128543245 | 128539918 | C | CTATCATA others(18): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0069 | 1 | 236 | 0.0042 | 25 | c.-23 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1674 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(18): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0198 | 1 | 380 | 0.0026 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(18): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02132.hp2 NA18980.hp2 others(2): Show |
a0002a0015a0016others(1): Show | a0002c0001a0015c0051a0016c0198others(1): Show | a0002c0001t0002a0015c0051t0001a0016c0198t0001others(1): Show | a0002c0001t0002g0245a0002c0001t0002g0246a0015c0051t0001g0215others(2): Show | 5 | 380 | 0.0132 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130659 | G | GGAAAAGA others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01070.hp1 others(10): Show |
a0005a0017a0019others(6): Show | a0005c0004a0005c0024a0017c0160others(7): Show | a0005c0004t0001a0005c0004t0002a0005c0024t0002others(8): Show | a0005c0004t0001g0153a0005c0004t0002g0250a0005c0024t0002g0120others(10): Show | 13 | 380 | 0.0342 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar |