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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(794): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 | 1 | 3 | 0.3333 | 801 | c.159 others(818): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(794): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0002c0009t0002 | a0001c0001t0002g0079 a0002c0009t0002g0080 |
2 | 120 | 0.0167 | 801 | c.389 others(822): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693579 | A | ACCACCAC others(794): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 50 | 0.0200 | 801 | c.299 others(818): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(794): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0050 |
2 | 167 | 0.0120 | 801 | c.115 others(818): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431796 | T | TAGGATGG others(794): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0178 | 1 | 330 | 0.0030 | 801 | c.101 others(820): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432101 | A | ATAGGGTG others(794): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0124 | 1 | 362 | 0.0028 | 801 | c.101 others(818): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235010748 | C | CAACCCTT others(794): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002a0002c0001t0007 | a0001c0002t0002g0263 a0002c0001t0002g0265 a0002c0001t0002g0266 others(1): Show |
4 | 249 | 0.0161 | 801 | c.-13 others(822): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19663441 | T | TCCTCCAC others(794): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 147 | 0.0068 | 801 | c.688 others(818): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414437 | T | TGGGGGGC others(794): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0008 a0001c0006t0005g0152 |
3 | 367 | 0.0082 | 801 | c.115 others(818): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(794): Show |
intron_variant | MODIFIER | NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 a0001c0002t0001g0148 |
2 | 5 | 0.4000 | 801 | c.157 others(820): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(794): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0273 |
2 | 83 | 0.0241 | 801 | c.*62 others(812): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376694 | G | GCCCCCAC others(794): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 342 | 0.0029 | 801 | c.-72 others(810): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 669 | chr19 | TogoVar | |||||||
TMEM239_chr20_2811364_2823062 | 2823000 | G | GTCTCCCT others(794): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 381 | 0.0026 | 801 | c.*59 others(812): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4939 | chr20 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418721 | T | TCCTTCCC others(794): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 86 | 0.0116 | 801 | c.215 others(818): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693645 | T | TCCACCTC others(794): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 | 1 | 24 | 0.0417 | 801 | c.-31 others(812): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3006 | chr20 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930756 | C | CGGGGTTA others(794): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0040 | 1 | 323 | 0.0031 | 801 | c.*48 others(812): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4613 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870463 | C | CACACACA others(794): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18945.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 others(1): Show |
4 | 322 | 0.0124 | 801 | c.*35 others(820): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(794): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 | 1 | 99 | 0.0101 | 801 | c.392 others(818): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(794): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0066a0001c0001t0067 | a0001c0001t0059g0258 a0001c0001t0066g0260 a0001c0001t0067g0259 |
3 | 46 | 0.0652 | 801 | c.-1- others(818): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(794): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0288 | 1 | 44 | 0.0227 | 801 | c.-1- others(818): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(794): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 44 | 0.0227 | 801 | c.-1- others(818): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCTT others(794): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03710.hp2 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0066 others(2): Show |
5 | 13 | 0.3846 | 801 | c.4-1 others(814): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(795): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02572.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0007 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0004c0005t0007g0263 |
3 | 9 | 0.3333 | 802 | c.446 others(821): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(795): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 7 | 0.1429 | 802 | c.446 others(821): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(795): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0099 others(2): Show |
5 | 11 | 0.4545 | 802 | c.446 others(821): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(795): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 7 | 0.1429 | 802 | c.446 others(821): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972456 | T | TGACCACA others(795): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0025 | a0003c0025t0011 | a0003c0025t0011g0055 | 1 | 252 | 0.0040 | 802 | c.460 others(819): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(795): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02622.hp1 HG03209.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0006a0005c0005t0005 | a0001c0001t0001g0059 a0001c0001t0006g0068 a0005c0005t0005g0069 others(1): Show |
4 | 41 | 0.0976 | 802 | c.248 others(819): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(795): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 38 | 0.0263 | 802 | c.248 others(819): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(795): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0015 |
2 | 151 | 0.0132 | 802 | c.223 others(823): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(795): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 4 | 0.2500 | 802 | c.342 others(821): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(795): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(6): Show |
a0001a0002a0011 | a0001c0001a0001c0015a0001c0045others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0002others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0177 a0001c0001t0002g0057 others(6): Show |
9 | 12 | 0.7500 | 802 | c.342 others(821): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(795): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 2 | 0.5000 | 802 | c.162 others(823): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(795): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 2 | 0.5000 | 802 | c.44- others(815): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GGGAGAGG others(795): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0030 | 802 | c.*29 others(813): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46721218 | A | ATTTTTAG others(795): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18961.hp2 NA18977.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0225 a0002c0002t0001g0226 others(1): Show |
4 | 279 | 0.0143 | 802 | c.316 others(817): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46721841 | A | ATTTTTTT others(795): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 309 | 0.0032 | 802 | c.317 others(819): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(795): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 270 | 0.0037 | 802 | c.-51 others(813): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(795): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02132.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0016g0166 others(3): Show |
6 | 275 | 0.0218 | 802 | c.-51 others(813): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(795): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 12 | 0.0833 | 802 | c.617 others(819): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237115 | G | GGGAGAGG others(795): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 323 | 0.0031 | 802 | c.-40 others(813): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3979 | chr11 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(795): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 343 | 0.0029 | 802 | c.-5+ others(815): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(795): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 343 | 0.0029 | 802 | c.-5+ others(815): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(795): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18956.hp1 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0053 a0001c0001t0003g0056 |
5 | 347 | 0.0144 | 802 | c.-5+ others(815): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(795): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp2 others(42): Show |
a0001a0011 | a0001c0001a0001c0010a0001c0015others(1): Show | a0001c0001t0003a0001c0001t0015a0001c0001t0031others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0018 others(15): Show |
45 | 387 | 0.1163 | 802 | c.-5+ others(815): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(795): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0016 | a0002c0002t0002g0218 a0002c0002t0016g0209 |
2 | 205 | 0.0098 | 802 | c.-36 others(813): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(795): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0193 | 1 | 204 | 0.0049 | 802 | c.-36 others(813): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173160 | C | CCCCCTCC others(795): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0098 | 1 | 152 | 0.0066 | 802 | c.*11 others(823): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786833 | G | GGCCACCA others(795): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 128 | 0.0078 | 802 | c.430 others(817): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205253 | C | CACACACC others(795): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 260 | 0.0038 | 802 | c.212 others(821): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |