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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL6_chr4_110040846_110203615 | 110094443 | A | ATATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0096a0001c0001t0001g0127others(23): Show | 26 | 338 | 0.0769 | 7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110127406 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0044others(78): Show | 81 | 338 | 0.2396 | 7 | c.90- others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60845468 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146a0001c0001t0003g0147a0001c0001t0003g0148others(6): Show | 9 | 258 | 0.0349 | 7 | c.-13 others(18): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1200 | chr5 | TogoVar | ||||||
ELP2_chr18_36124899_36185557 | 36179307 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0007others(21): Show | a0001c0001t0003g0243a0002c0002t0003g0001a0002c0002t0003g0013others(87): Show | 91 | 378 | 0.2407 | 7 | c.*46 others(18): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 22/22 | 4683 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ELSPBP1_chr19_47989632_48030154 | 48006648 | G | GAAAAGAA | intron_variant | MODIFIER | NA18988.hp2 NA18993.hp2 NA19010.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0040a0001c0001t0001g0358a0001c0001t0002g0133others(2): Show | 5 | 388 | 0.0129 | 7 | c.-17 others(24): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9963477 | A | ATATATTT | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0039a0001c0001t0063 | a0001c0001t0007g0011a0001c0001t0007g0121a0001c0001t0007g0122others(8): Show | 12 | 322 | 0.0373 | 7 | c.*59 others(16): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 591 | chr3 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9990325 | C | CTCTTTTT | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0067 | a0001c0001t0004g0018a0001c0001t0004g0284a0001c0001t0004g0287others(2): Show | 6 | 322 | 0.0186 | 7 | c.-36 others(18): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 3485 | chr3 | TogoVar | ||||||
EMC7_chr15_34079017_34106862 | 34093823 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03139.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0266a0001c0001t0001g0297others(4): Show | 8 | 410 | 0.0195 | 7 | c.356 others(24): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01123.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0185others(9): Show | 12 | 262 | 0.0458 | 7 | c.259 others(24): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02615.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0001 | 4 | 284 | 0.0141 | 7 | c.-36 others(18): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29250733 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(15): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(3): Show | a0001c0002t0001g0229a0001c0002t0001g0239a0001c0002t0002g0223others(15): Show | 18 | 348 | 0.0517 | 7 | c.112 others(26): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMILIN1_chr2_27073615_27091403 | 27087603 | A | ATCAGGTG | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0045others(4): Show | 22 | 316 | 0.0696 | 7 | c.*15 others(18): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 1201 | chr2 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99847072 | A | AAAATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(22): Show | a0001c0003t0001g0167a0001c0003t0001g0168a0001c0003t0001g0225others(68): Show | 71 | 288 | 0.2465 | 7 | c.68- others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42221403 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01981.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0059a0002c0002t0001g0004a0002c0002t0001g0005others(13): Show | 16 | 358 | 0.0447 | 7 | c.26- others(24): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01952.hp2 HG02083.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0002 | a0001c0001t0002g0278a0002c0002t0001g0047a0002c0002t0001g0088others(4): Show | 7 | 358 | 0.0196 | 7 | c.26- others(20): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42265675 | A | AAGCCATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(196): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0002g0122a0001c0001t0002g0187a0001c0001t0003g0119others(194): Show | 199 | 358 | 0.5559 | 7 | c.667 others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 6/22 | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88660748 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(170): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0283others(167): Show | 173 | 332 | 0.5211 | 7 | c.367 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 25/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88759685 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp1 others(59): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0086others(57): Show | 62 | 332 | 0.1868 | 7 | c.198 others(24): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54789532 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0002t0020a0001c0003t0002others(1): Show | a0001c0001t0019g0167a0001c0001t0019g0168a0001c0001t0019g0169others(5): Show | 8 | 264 | 0.0303 | 7 | c.198 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54797164 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG03209.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0015a0001c0004t0016a0001c0005t0017others(2): Show | a0001c0003t0015g0109a0001c0004t0016g0085a0001c0005t0017g0084others(2): Show | 5 | 264 | 0.0189 | 7 | c.198 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG02615.hp1 others(8): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0016others(5): Show | a0001c0001t0008g0123a0001c0001t0014g0008a0001c0001t0014g0009others(8): Show | 11 | 264 | 0.0417 | 7 | c.243 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT | intron_variant | MODIFIER | HG01071.hp2 HG01257.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0004g0352a0001c0001t0006g0144a0001c0001t0009g0341others(8): Show | 11 | 402 | 0.0274 | 7 | c.-61 others(24): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76523704 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0300a0001c0002t0001g0052a0001c0002t0001g0053others(3): Show | 6 | 360 | 0.0167 | 7 | c.186 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EMSY_chr11_76440018_76558031 | 76542745 | C | CGTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(113): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0291a0001c0001t0001g0292others(112): Show | 116 | 360 | 0.3222 | 7 | c.275 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EMSY_chr11_76440018_76558031 | 76542758 | T | TTGTTTTG | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0344a0001c0001t0006g0009a0001c0001t0006g0010others(3): Show | 6 | 360 | 0.0167 | 7 | c.275 others(24): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EN1_chr2_118837171_118852648 | 118847726 | G | GGTTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01168.hp1 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0003a0001c0001t0004g0017a0001c0001t0012g0044others(2): Show | 13 | 442 | 0.0294 | 7 | c.-56 others(16): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 79 | chr2 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225574900 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG02027.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0018a0001c0001t0019a0001c0001t0026others(12): Show | a0001c0001t0018g0169a0001c0001t0018g0189a0001c0001t0019g0063others(17): Show | 20 | 308 | 0.0649 | 7 | c.6-7 others(20): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225586241 | C | CAAAAAAA | intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 HG04115.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0006 | a0001c0003t0014a0001c0003t0029a0001c0003t0110others(4): Show | a0001c0003t0014g0022a0001c0003t0014g0025a0001c0003t0014g0050others(7): Show | 10 | 308 | 0.0325 | 7 | c.6-1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225621296 | C | CTTTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG03017.hp2 HG03834.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0029a0001c0003t0107others(1): Show | a0001c0003t0014g0022a0001c0003t0014g0025a0001c0003t0014g0049others(5): Show | 8 | 308 | 0.0260 | 7 | c.5+3 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENDOD1_chr11_95084846_95137645 | 95123588 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02572.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0097others(8): Show | 11 | 368 | 0.0299 | 7 | c.301 others(24): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENDOG_chr9_128813500_128827676 | 128818108 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01106.hp1 others(17): Show |
a0002a0007 | a0002c0002a0002c0007a0007c0010 | a0002c0002t0001a0002c0007t0001a0007c0010t0001 | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0029others(4): Show | 20 | 420 | 0.0476 | 7 | c.-57 others(16): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 391 | chr9 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127828019 | C | CAAAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0142a0001c0001t0001g0257others(9): Show | 12 | 344 | 0.0349 | 7 | c.361 others(24): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 3/14 | chr9 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0229others(6): Show | 9 | 344 | 0.0262 | 7 | c.68- others(20): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6924739 | T | TTCTCCTG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01891.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0009a0001c0001t0003g0024a0001c0001t0003g0069others(7): Show | 30 | 376 | 0.0798 | 7 | c.*19 others(18): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1043 | chr12 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 666891 | A | AGATGAGT | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02615.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0006a0001c0001t0014a0002c0002t0005others(4): Show | a0001c0001t0006g0336a0001c0001t0014g0300a0002c0002t0005g0175others(4): Show | 7 | 418 | 0.0168 | 7 | c.*74 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3426 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667280 | G | GTGATGGT | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0015a0009c0014 | a0001c0001t0001a0001c0001t0002a0002c0015t0002others(1): Show | a0001c0001t0001g0221a0001c0001t0002g0031a0001c0001t0002g0116others(2): Show | 5 | 418 | 0.0120 | 7 | c.*70 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3037 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 704440 | G | GAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0152a0001c0001t0002g0083a0001c0001t0006g0225others(11): Show | 14 | 418 | 0.0335 | 7 | c.193 others(24): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATAT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp1 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0180a0001c0001t0002g0001a0001c0001t0002g0004others(77): Show | 84 | 418 | 0.2010 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATTT | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0013a0003c0004others(2): Show | a0001c0001t0002a0001c0013t0002a0003c0004t0003others(3): Show | a0001c0001t0002g0164a0001c0001t0002g0199a0001c0013t0002g0146others(7): Show | 11 | 418 | 0.0263 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706816 | T | TATATATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(14): Show | a0001c0001t0001g0055a0001c0001t0002g0037a0001c0001t0002g0127others(66): Show | 71 | 418 | 0.1699 | 7 | c.85- others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 713470 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0001g0255a0001c0001t0006g0225a0001c0001t0012g0059others(10): Show | 13 | 418 | 0.0311 | 7 | c.-88 others(16): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43374230 | T | TTCTTTTA | intron_variant | MODIFIER | HG00738.hp2 HG02080.hp2 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0074others(6): Show | 9 | 188 | 0.0479 | 7 | c.209 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 5/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43417193 | A | AGGGAGAC | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0003g0021a0001c0001t0003g0123a0001c0001t0004g0114others(4): Show | 7 | 188 | 0.0372 | 7 | c.-74 others(24): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43589636 | C | CTATACTT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(169): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0080a0001c0001t0001g0098a0001c0001t0002g0006others(169): Show | 172 | 188 | 0.9149 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43593492 | A | AACAAAAC | intron_variant | MODIFIER | HG01257.hp1 HG01515.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0005g0145a0001c0001t0008g0091a0001c0001t0010g0099others(1): Show | 4 | 188 | 0.0213 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG02080.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0058a0001c0001t0005g0184a0001c0001t0007g0185others(2): Show | 5 | 188 | 0.0266 | 7 | c.-21 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130632364 | C | CGGGGGGG | intron_variant | MODIFIER | HG00621.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0122 | 2 | 154 | 0.0130 | 7 | c.142 others(24): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 12/14 | chrX | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130649043 | C | CAAAAAAA | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 154 | 0.0065 | 7 | c.112 others(26): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 10/14 | chrX | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130682583 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(1): Show | 4 | 154 | 0.0260 | 7 | c.254 others(24): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 5/14 | chrX | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130824875 | T | TATTTAAG | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 154 | 0.0065 | 7 | c.-18 others(28): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 2/14 | chrX | TogoVar |