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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVA1A_chr2_75487318_75565939 | 75500534 | G | GGGGAAAG others(24): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0061 | 1 | 382 | 0.0026 | 31 | c.86- others(46): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92669547 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0076 | 1 | 28 | 0.0357 | 31 | c.115 others(50): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 10/19 | chr1 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137327985 | A | ACCCACAT others(24): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02165.hp1 HG02976.hp1 others(5): Show |
a0001a0002a0010others(2): Show | a0001c0001a0002c0002a0010c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0010c0006t0001others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0063 others(5): Show |
8 | 70 | 0.1143 | 31 | c.199 others(50): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328831 | A | ACTACACG others(24): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0017 | a0017c0015 | a0017c0015t0001 | a0017c0015t0001g0073 | 1 | 62 | 0.0161 | 31 | c.199 others(50): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329073 | G | GGCTACAC others(24): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0002g0001 |
2 | 79 | 0.0253 | 31 | c.199 others(50): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501502 | C | CTATATAT others(24): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 46 | 0.0217 | 31 | c.238 others(50): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133558191 | C | CTTTTCTT others(24): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 92 | 0.0109 | 31 | c.141 others(52): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133833136 | C | CACAAGGC others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01071.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0016others(2): Show | a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0015 others(16): Show |
19 | 100 | 0.1900 | 31 | c.173 others(52): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0155 | 1 | 69 | 0.0145 | 31 | c.963 others(50): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117927406 | T | TTTTAAAA others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 others(167): Show |
171 | 188 | 0.9096 | 31 | c.963 others(50): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117927406 | T | TTTTAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0146 a0001c0001t0035g0017 |
2 | 19 | 0.1053 | 31 | c.963 others(50): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0218 a0001c0001t0003g0045 a0001c0001t0003g0276 others(4): Show |
7 | 104 | 0.0673 | 31 | c.-68 others(50): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 98 | 0.0102 | 31 | c.-68 others(50): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01433.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0020 a0001c0001t0003g0038 a0001c0001t0003g0051 others(9): Show |
12 | 109 | 0.1101 | 31 | c.-68 others(50): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0302 |
2 | 99 | 0.0202 | 31 | c.-68 others(50): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073128 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02300.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0288 a0001c0001t0004g0367 a0001c0001t0004g0368 others(2): Show |
5 | 354 | 0.0141 | 31 | c.-68 others(50): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65519708 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0014 | a0014c0003 | a0014c0003t0001 | a0014c0003t0001g0016 | 1 | 8 | 0.1250 | 31 | c.-33 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65519708 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0023 | 1 | 8 | 0.1250 | 31 | c.-33 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113154228 | G | GCGGGGCG others(24): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG02071.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0001a0001c0015t0001 | a0001c0001t0001g0066 a0001c0001t0001g0176 a0001c0001t0001g0207 others(4): Show |
7 | 408 | 0.0172 | 31 | c.*47 others(42): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4700 | chr13 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6210348 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0200 | 1 | 289 | 0.0035 | 31 | c.111 others(52): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6309203 | T | TAGGCAAC others(24): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01255.hp1 HG01496.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0002g0050 others(1): Show |
4 | 290 | 0.0138 | 31 | c.131 others(48): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01433.hp2 HG02055.hp2 |
a0006a0007 | a0006c0009a0007c0013 | a0006c0009t0005a0007c0013t0002 | a0006c0009t0005g0060 a0006c0009t0005g0083 a0007c0013t0002g0082 |
3 | 13 | 0.2308 | 31 | c.952 others(46): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 72 | 0.0278 | 31 | c.-80 others(40): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824488 | G | GAGAGAGA others(24): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 157 | 0.0064 | 31 | c.-39 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3811 | chr11 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824502 | G | GAAAGAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 129 | 0.0078 | 31 | c.-38 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3797 | chr11 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01070.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0066 others(2): Show |
5 | 113 | 0.0442 | 31 | c.883 others(48): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAIM2_chr12_49861896_49908900 | 49898904 | G | GGCTTTCC others(24): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0227 | 1 | 434 | 0.0023 | 31 | c.212 others(46): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73225899 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0164 | 1 | 235 | 0.0043 | 31 | c.321 others(48): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14737766 | T | TCTCTCTC others(24): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 16 | 0.0625 | 31 | c.411 others(50): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
FAM120A_chr9_93446685_93571112 | 93545780 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 97 | 0.0103 | 31 | c.215 others(50): Show |
FAM120A | ENSG00000048828.18 | transcript | ENST00000277165.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170407726 | C | CAGACAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 85 | 0.0118 | 31 | c.*29 others(42): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 660 | chr6 | TogoVar | |||||||
FAM13C_chr10_59241133_59367549 | 59286516 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0198 | 1 | 5 | 0.2000 | 31 | c.508 others(48): Show |
FAM13C | ENSG00000148541.13 | transcript | ENST00000618804.5 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
FAM162B_chr6_116747197_116770719 | 116770269 | A | ATGGTCAG others(24): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 472 | 0.0021 | 31 | c.-46 others(42): Show |
FAM162B | ENSG00000183807.8 | transcript | ENST00000368557.6 | protein_coding | 4551 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 50 | 0.0200 | 31 | c.291 others(50): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0102 |
3 | 52 | 0.0577 | 31 | c.291 others(50): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG06807.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0258 |
2 | 51 | 0.0392 | 31 | c.291 others(50): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 119030894 | A | AATTTCAT others(24): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 284 | 0.0035 | 31 | c.160 others(48): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50346215 | G | GAGAGAGA others(24): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 86 | 0.0116 | 31 | c.650 others(50): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0003 | a0007c0007t0001g0110 a0007c0007t0003g0118 |
2 | 82 | 0.0244 | 31 | c.502 others(48): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2620836 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0239 | 1 | 118 | 0.0085 | 31 | c.502 others(48): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM199X_chrX_104161453_104200902 | 104200078 | A | ACTGAGGA others(24): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0009 | 1 | 283 | 0.0035 | 31 | c.*10 others(44): Show |
FAM199X | ENSG00000123575.9 | transcript | ENST00000493442.2 | protein_coding | 4177 | chrX | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28778719 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0275 | 1 | 97 | 0.0103 | 31 | c.-40 others(50): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM222B_chr17_28750980_28847790 | 28790884 | C | CATTTTTT others(24): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 13 | 0.0769 | 31 | c.-40 others(50): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38624643 | G | GGTGTCTA others(24): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 326 | 0.0031 | 31 | c.851 others(48): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1666319 | T | TGTATCTA others(24): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0056 | 1 | 80 | 0.0125 | 31 | c.75+ others(46): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
FAM72B_chr1_121162646_121189340 | 121178447 | A | ACTATAAA others(24): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 378 | 0.0026 | 31 | c.231 others(48): Show |
FAM72B | ENSG00000188610.12 | transcript | ENST00000369390.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89771155 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0317 | 1 | 272 | 0.0037 | 31 | c.215 others(48): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 23/42 | chr16 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125906515 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0338 | 1 | 146 | 0.0068 | 31 | c.13+ others(46): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125918585 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 241 | 0.0041 | 31 | c.13+ others(48): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03490.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0122 |
2 | 29 | 0.0690 | 31 | c.13+ others(48): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |