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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NDUFA5_chr7_123531997_123562818 | 123540890 | GCACACAC others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0011a0001c0001t0012g0106a0001c0001t0012g0131 | 6 | 414 | 0.0145 | -8 | c.*12 others(19): Show |
NDUFA5 | ENSG00000128609.16 | transcript | ENST00000355749.7 | protein_coding | 5/5 | 1221 | chr7 | TogoVar | |||||
NDUFA7_chr19_8306284_8326375 | 8322735 | TAGCCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00621.hp1 others(37): Show |
a0000a0001 | a0000c0006a0001c0001 | a0000c0006t0002a0001c0001t0001 | a0000c0006t0002g0121a0001c0001t0001g0006a0001c0001t0001g0010others(17): Show | 40 | 402 | 0.0995 | -8 | c.-13 others(19): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 1361 | chr19 | TogoVar | ||||||
NDUFA9_chr12_4644114_4699317 | 4697753 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02976.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0001c0001t0044a0003c0002t0015 | a0001c0001t0002g0001a0001c0001t0002g0087a0001c0001t0002g0142others(3): Show | 7 | 362 | 0.0193 | -8 | c.*10 others(21): Show |
NDUFA9 | ENSG00000139180.11 | transcript | ENST00000266544.10 | protein_coding | 3437 | chr12 | TogoVar | ||||||
NDUFAB1_chr16_23576014_23601316 | 23582565 | ATGTTTGT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0216a0001c0001t0001g0221 | 3 | 360 | 0.0083 | -8 | c.380 others(23): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
NDUFAB1_chr16_23576014_23601316 | 23593849 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01934.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0084a0001c0001t0001g0085others(11): Show | 16 | 360 | 0.0444 | -8 | c.168 others(25): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
NDUFAF2_chr5_60940205_61158026 | 61021351 | ATCTGTCG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(171): Show | 175 | 266 | 0.6579 | -8 | c.128 others(27): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61056919 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01891.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0244a0001c0001t0001g0247a0001c0001t0001g0250others(4): Show | 7 | 266 | 0.0263 | -8 | c.128 others(27): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61107046 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0140a0001c0001t0001g0143others(5): Show | 8 | 266 | 0.0301 | -8 | c.258 others(25): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61118573 | AGTTATAT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0144a0001c0001t0001g0145others(4): Show | 8 | 266 | 0.0301 | -8 | c.258 others(27): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61136005 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02683.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139a0001c0001t0001g0237a0001c0002t0001g0205 | 3 | 266 | 0.0113 | -8 | c.259 others(27): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61143958 | TTTTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0057a0001c0001t0001g0058others(42): Show | 45 | 266 | 0.1692 | -8 | c.259 others(25): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF2_chr5_60940205_61158026 | 61143960 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0005others(8): Show | 11 | 266 | 0.0414 | -8 | c.259 others(25): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF5_chr20_13780028_13826580 | 13785296 | CCCGCGGG others(1): Show |
C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0038a0001c0001t0039 | a0001c0001t0004g0004a0001c0001t0004g0013a0001c0001t0004g0042others(19): Show | 45 | 416 | 0.1082 | -8 | c.222 others(20): Show |
NDUFAF5 | ENSG00000101247.18 | transcript | ENST00000378106.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NDUFAF7_chr2_37226658_37254160 | 37235639 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0006a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0019others(52): Show | 156 | 432 | 0.3611 | -8 | c.217 others(23): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NDUFAF7_chr2_37226658_37254160 | 37249558 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02040.hp1 HG02280.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0006c0011t0002 | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0002g0007others(5): Show | 13 | 432 | 0.0301 | -8 | c.*12 others(19): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 399 | chr2 | TogoVar | ||||||
NDUFAF7_chr2_37226658_37254160 | 37249598 | CACACAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0072a0001c0001t0005g0026a0001c0001t0005g0119 | 5 | 432 | 0.0116 | -8 | c.*12 others(19): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 439 | chr2 | TogoVar | ||||||
NDUFAF7_chr2_37226658_37254160 | 37249643 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0006a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0019others(49): Show | 148 | 432 | 0.3426 | -8 | c.*12 others(19): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 484 | chr2 | TogoVar | ||||||
NDUFB3_chr2_201067001_201090750 | 201069541 | GAAACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02135.hp2 NA19088.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0065others(1): Show | 4 | 332 | 0.0121 | -8 | c.-25 others(19): Show |
NDUFB3 | ENSG00000119013.10 | transcript | ENST00000237889.9 | protein_coding | 2459 | chr2 | TogoVar | ||||||
NDUFB3_chr2_201067001_201090750 | 201069543 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(29): Show | 45 | 332 | 0.1355 | -8 | c.-25 others(19): Show |
NDUFB3 | ENSG00000119013.10 | transcript | ENST00000237889.9 | protein_coding | 2457 | chr2 | TogoVar | ||||||
NDUFB5_chr3_179599794_179632647 | 179624572 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01070.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0019others(14): Show | 45 | 366 | 0.1230 | -8 | c.*55 others(17): Show |
NDUFB5 | ENSG00000136521.13 | transcript | ENST00000259037.8 | protein_coding | 6/6 | 557 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
NDUFB6_chr9_32548001_32578159 | 32556846 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0105others(3): Show | 12 | 378 | 0.0318 | -8 | c.318 others(25): Show |
NDUFB6 | ENSG00000165264.11 | transcript | ENST00000379847.8 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
NDUFB8_chr10_100518740_100534871 | 100525615 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0026others(13): Show | 31 | 362 | 0.0856 | -8 | c.468 others(23): Show |
NDUFB8 | ENSG00000166136.16 | transcript | ENST00000299166.9 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
NDUFB8_chr10_100518740_100534871 | 100525717 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG02698.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0088a0001c0001t0001g0089others(5): Show | 12 | 362 | 0.0332 | -8 | c.468 others(23): Show |
NDUFB8 | ENSG00000166136.16 | transcript | ENST00000299166.9 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
NDUFS3_chr11_47574074_47589562 | 47579984 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00642.hp2 others(89): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0011others(6): Show | 92 | 422 | 0.2180 | -8 | c.134 others(23): Show |
NDUFS3 | ENSG00000213619.11 | transcript | ENST00000263774.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NDUFS3_chr11_47574074_47589562 | 47588719 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0071 | 8 | 422 | 0.0190 | -8 | c.*42 others(19): Show |
NDUFS3 | ENSG00000213619.11 | transcript | ENST00000263774.9 | protein_coding | 4158 | chr11 | TogoVar | ||||||
NDUFS4_chr5_53555639_53688338 | 53586507 | AGTTAGTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp2 others(97): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0008t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0273a0001c0001t0001g0274others(96): Show | 100 | 378 | 0.2646 | -8 | c.99- others(25): Show |
NDUFS4 | ENSG00000164258.12 | transcript | ENST00000296684.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFS5_chr1_39021350_39039615 | 39024918 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 NA18942.hp2 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0053a0001c0001t0001g0054 | 5 | 438 | 0.0114 | -8 | c.-14 others(19): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1431 | chr1 | TogoVar | ||||||
NDUFS5_chr1_39021350_39039615 | 39032119 | ACTGCACT others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01168.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0087a0001c0001t0001g0088others(3): Show | 19 | 438 | 0.0434 | -8 | c.217 others(25): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NDUFS7_chr19_1378907_1400584 | 1387919 | GTGGGGGG others(1): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02132.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0184a0001c0001t0001g0185others(1): Show | 6 | 418 | 0.0144 | -8 | c.53+ others(19): Show |
NDUFS7 | ENSG00000115286.21 | transcript | ENST00000233627.14 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
NDUFS8_chr11_68025681_68041644 | 68030111 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0095a0001c0001t0002g0002others(1): Show | 8 | 408 | 0.0196 | -8 | c.-62 others(17): Show |
NDUFS8 | ENSG00000110717.13 | transcript | ENST00000313468.10 | protein_coding | 569 | chr11 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42915020 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0073a0001c0001t0074 | a0001c0001t0016g0031a0001c0001t0016g0150a0001c0001t0016g0152others(3): Show | 6 | 348 | 0.0172 | -8 | c.*60 others(19): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1722 | chr21 | TogoVar | ||||||
NEBL_chr10_20774973_20902311 | 20776595 | ACCAATCA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0281a0001c0001t0018g0292a0001c0001t0018g0294 | 3 | 338 | 0.0089 | -8 | c.*91 others(19): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 3377 | chr10 | TogoVar | ||||||
NEBL_chr10_20774973_20902311 | 20796367 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(23): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0003a0002c0002t0003others(4): Show | a0001c0001t0003g0329a0001c0003t0003g0023a0002c0002t0003g0020others(23): Show | 26 | 338 | 0.0769 | -8 | c.276 others(27): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 26/27 | chr10 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151512019 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(35): Show |
a0001a0005a0012others(23): Show | a0001c0001a0001c0082a0005c0008others(28): Show | a0001c0001t0001a0001c0082t0001a0005c0008t0001others(28): Show | a0001c0001t0001g0097a0001c0001t0001g0112a0001c0001t0001g0117others(35): Show | 38 | 188 | 0.2021 | -8 | c.233 others(27): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 161/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151519136 | AAGTGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG03195.hp2 others(2): Show |
a0025a0042a0044others(1): Show | a0025c0011a0042c0095a0044c0092others(1): Show | a0025c0011t0001a0042c0095t0001a0044c0092t0001others(1): Show | a0025c0011t0001g0089a0025c0011t0001g0090a0042c0095t0001g0020others(2): Show | 5 | 188 | 0.0266 | -8 | c.225 others(25): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 154/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151584868 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(21): Show |
a0010a0017a0025others(17): Show | a0010c0137a0010c0138a0010c0139others(19): Show | a0010c0137t0001a0010c0138t0001a0010c0139t0001others(19): Show | a0010c0137t0001g0093a0010c0138t0001g0091a0010c0139t0001g0106others(21): Show | 24 | 188 | 0.1277 | -8 | c.156 others(27): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 100/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151595421 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01891.hp2 HG02683.hp1 others(9): Show |
a0017a0025a0042others(7): Show | a0017c0015a0025c0011a0042c0095others(7): Show | a0017c0015t0001a0025c0011t0001a0042c0095t0001others(7): Show | a0017c0015t0001g0164a0017c0015t0001g0165a0025c0011t0001g0089others(9): Show | 12 | 188 | 0.0638 | -8 | c.142 others(27): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 92/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151608905 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(21): Show |
a0001a0005a0012others(10): Show | a0001c0001a0001c0082a0005c0008others(14): Show | a0001c0001t0001a0001c0082t0001a0005c0008t0001others(14): Show | a0001c0001t0001g0112a0001c0001t0001g0117a0001c0001t0001g0124others(21): Show | 24 | 188 | 0.1277 | -8 | c.123 others(27): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 81/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151620343 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG01891.hp2 |
a0025a0036a0043 | a0025c0011a0036c0029a0043c0084 | a0025c0011t0001a0036c0029t0001a0043c0084t0001 | a0025c0011t0001g0089a0036c0029t0001g0176a0043c0084t0001g0018 | 3 | 188 | 0.0160 | -8 | c.105 others(27): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 72/181 | chr2 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151638807 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 NA20129.hp1 |
a0035a0050a0080 | a0035c0146a0050c0099a0080c0030 | a0035c0146t0001a0050c0099t0001a0080c0030t0001 | a0035c0146t0001g0103a0050c0099t0001g0098a0080c0030t0001g0074 | 3 | 188 | 0.0160 | -8 | c.899 others(25): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 63/181 | chr2 | TogoVar | ||||||
NECAB1_chr8_90786775_90964393 | 90849686 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0151a0001c0001t0005g0147a0001c0001t0005g0149others(21): Show | 24 | 248 | 0.0968 | -8 | c.234 others(27): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90917909 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 NA19004.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034 | a0001c0001t0005g0147a0001c0001t0005g0153a0001c0001t0005g0155others(1): Show | 4 | 248 | 0.0161 | -8 | c.494 others(23): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90917911 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp1 HG02165.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0079a0001c0001t0002g0018a0001c0001t0002g0055others(11): Show | 14 | 248 | 0.0565 | -8 | c.494 others(23): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90949146 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00673.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0226a0001c0001t0002g0011a0001c0001t0002g0018others(54): Show | 57 | 248 | 0.2298 | -8 | c.861 others(23): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90954067 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03239.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0006g0148a0001c0001t0009g0137a0001c0001t0014g0190others(1): Show | 4 | 248 | 0.0161 | -8 | c.103 others(27): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90955112 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0002g0081a0001c0001t0009g0137a0001c0001t0009g0239others(7): Show | 10 | 248 | 0.0403 | -8 | c.103 others(25): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NECAB1_chr8_90786775_90964393 | 90956943 | CGTGTGTG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009 | a0001c0001t0009g0134a0001c0001t0009g0135a0001c0001t0009g0137others(3): Show | 6 | 248 | 0.0242 | -8 | c.*14 others(19): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 13/13 | 1466 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
NECAB2_chr16_83963244_84007776 | 83964310 | TTAAAATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02630.hp2 others(2): Show |
a0002a0003a0004 | a0002c0003a0003c0008a0004c0005 | a0002c0003t0003a0002c0003t0022a0003c0008t0004others(1): Show | a0002c0003t0003g0229a0002c0003t0022g0231a0003c0008t0004g0036others(2): Show | 5 | 354 | 0.0141 | -8 | c.-43 others(19): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 3933 | chr16 | TogoVar | ||||||
NECAB2_chr16_83963244_84007776 | 83993620 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG02132.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0008others(5): Show | a0001c0001t0001g0107a0001c0001t0002g0042a0002c0003t0008g0027others(7): Show | 10 | 354 | 0.0283 | -8 | c.597 others(23): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NECAB2_chr16_83963244_84007776 | 84002999 | TAGATGAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01109.hp1 others(106): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0007others(25): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(53): Show | a0001c0001t0002g0047a0001c0001t0006g0089a0001c0001t0014g0300others(106): Show | 109 | 354 | 0.3079 | -8 | c.*65 others(17): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 224 | chr16 | TogoVar |