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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP42_chr7_23177048_23206006 | 23202657 | GCCCCGCC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01256.hp2 others(17): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0002a0005c0007t0002 | a0001c0002t0002g0026a0001c0002t0002g0038a0001c0002t0002g0039others(14): Show | 20 | 364 | 0.0550 | -8 | c.*19 others(19): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 1652 | chr7 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125619 | GGAGAGGG others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0302a0001c0004t0004g0305a0001c0004t0004g0306others(1): Show | 4 | 370 | 0.0108 | -8 | c.105 others(25): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125649 | GGAGAGGG others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0152a0001c0001t0002g0153others(2): Show | 6 | 370 | 0.0162 | -8 | c.105 others(25): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125744 | AGAGAGGG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01069.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0260a0001c0001t0002g0163a0001c0001t0002g0181others(42): Show | 45 | 370 | 0.1216 | -8 | c.105 others(25): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125827 | GGGGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG03041.hp1 others(14): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004a0001c0004t0001g0314a0001c0004t0001g0315others(11): Show | 17 | 370 | 0.0460 | -8 | c.105 others(27): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76129966 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0146a0001c0001t0002g0147a0001c0001t0002g0148others(11): Show | 14 | 370 | 0.0378 | -8 | c.105 others(25): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP58_chr13_25296625_25347421 | 25304478 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0163a0001c0001t0001g0223others(35): Show | 52 | 350 | 0.1486 | -8 | c.107 others(25): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NUP62CL_chrX_107118427_107211433 | 107152071 | TATATTCA others(1): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG02165.hp2 HG03516.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0016others(9): Show | 12 | 280 | 0.0429 | -8 | c.530 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 7/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107152143 | TATATTCA others(1): Show |
T | intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 280 | 0.0036 | -8 | c.530 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 7/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107184291 | AAAGAGAA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02886.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0003a0003c0003t0003a0004c0005t0003 | a0001c0001t0003g0111a0001c0001t0003g0136a0003c0003t0003g0137others(2): Show | 5 | 280 | 0.0179 | -8 | c.-48 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107184296 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00738.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0003g0114a0001c0001t0003g0263a0001c0001t0003g0264others(43): Show | 46 | 280 | 0.1643 | -8 | c.-48 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107189828 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01099.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0008others(30): Show | 33 | 280 | 0.1179 | -8 | c.-48 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107189877 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01255.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0002g0068a0002c0002t0001g0171a0002c0002t0001g0173others(12): Show | 15 | 280 | 0.0536 | -8 | c.-48 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107194801 | TTCTTTCT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 280 | 0.0036 | -8 | c.-91 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107194807 | CTCTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(88): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(88): Show | 91 | 280 | 0.3250 | -8 | c.-91 others(25): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP62_chr19_49901825_49934504 | 49904741 | ACTCTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG01433.hp2 others(33): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0011a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0011g0007a0001c0001t0011g0011a0001c0001t0011g0016others(25): Show | 36 | 416 | 0.0865 | -8 | c.*34 others(19): Show |
NUP62 | ENSG00000213024.13 | transcript | ENST00000352066.8 | protein_coding | 2083 | chr19 | TogoVar | ||||||
NUP85_chr17_75200679_75240758 | 75202792 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0012 | a0001c0001t0001a0001c0003t0002a0004c0012t0001 | a0001c0001t0001g0013a0001c0001t0001g0165a0001c0003t0002g0178others(2): Show | 6 | 276 | 0.0217 | -8 | c.-29 others(19): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 2886 | chr17 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56726896 | TAAACAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(25): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0024others(2): Show | a0001c0002t0001g0001a0001c0004t0005g0020a0001c0004t0005g0021others(25): Show | 28 | 378 | 0.0741 | -8 | c.-33 others(19): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3232 | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56733424 | AAGTAGAG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(27): Show |
a0001a0003 | a0001c0004a0001c0009a0003c0024 | a0001c0004t0005a0001c0004t0015a0001c0004t0024others(2): Show | a0001c0004t0005g0020a0001c0004t0005g0021a0001c0004t0005g0022others(27): Show | 30 | 378 | 0.0794 | -8 | c.-15 others(25): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56794086 | GTAGGTAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0052a0001c0001t0001g0114others(71): Show | 75 | 378 | 0.1984 | -8 | c.298 others(25): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56794584 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0037others(2): Show | a0001c0001t0001g0169a0001c0002t0001g0044a0001c0002t0001g0057others(42): Show | 45 | 378 | 0.1191 | -8 | c.298 others(25): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56794927 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02080.hp1 HG02109.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0043a0001c0002t0001others(6): Show | a0001c0001t0001g0169a0001c0001t0043g0154a0001c0002t0001g0064others(19): Show | 22 | 378 | 0.0582 | -8 | c.298 others(25): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP98_chr11_3670019_3802554 | 3684766 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0275a0001c0001t0001g0307a0001c0001t0001g0337others(13): Show | 16 | 342 | 0.0468 | -8 | c.467 others(27): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 29/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702313 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 HG01891.hp1 others(17): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0150others(17): Show | 20 | 342 | 0.0585 | -8 | c.351 others(25): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3709837 | GGGGAGGG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(110): Show |
a0001a0007a0008others(4): Show | a0001c0001a0001c0002a0007c0027others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0075a0001c0001t0001g0076others(110): Show | 113 | 342 | 0.3304 | -8 | c.274 others(27): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 20/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3726410 | CTTTGAAG others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0061a0001c0001t0001g0253others(4): Show | 7 | 342 | 0.0205 | -8 | c.173 others(27): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 14/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3735748 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(78): Show |
a0001a0008a0010others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0044others(78): Show | 81 | 342 | 0.2368 | -8 | c.140 others(25): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 12/32 | chr11 | TogoVar | ||||||
NUPR1_chr16_28527708_28543974 | 28528003 | CACACACT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0001a0001c0001t0002g0005a0001c0001t0002g0056others(31): Show | 66 | 368 | 0.1794 | -8 | c.*96 others(19): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 4704 | chr16 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115423 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 4 | 448 | 0.0089 | -8 | c.*7- others(21): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56118394 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(13): Show | 85 | 448 | 0.1897 | -8 | c.-20 others(19): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1978 | chr7 | TogoVar | ||||||
NUS1_chr6_117670469_117715727 | 117686845 | AGTGTGTA others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0004 | a0001c0001t0001g0087a0001c0001t0001g0110a0001c0001t0004g0181others(3): Show | 7 | 430 | 0.0163 | -8 | c.416 others(25): Show |
NUS1 | ENSG00000153989.8 | transcript | ENST00000368494.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NUS1_chr6_117670469_117715727 | 117686852 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(49): Show | 87 | 430 | 0.2023 | -8 | c.416 others(25): Show |
NUS1 | ENSG00000153989.8 | transcript | ENST00000368494.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NUS1_chr6_117670469_117715727 | 117691558 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(63): Show | 118 | 430 | 0.2744 | -8 | c.416 others(25): Show |
NUS1 | ENSG00000153989.8 | transcript | ENST00000368494.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NUSAP1_chr15_41327881_41386046 | 41346828 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0026others(61): Show | 66 | 292 | 0.2260 | -8 | c.163 others(25): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUSAP1_chr15_41327881_41386046 | 41372494 | TTAAACAT others(1): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18959.hp1 NA18974.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0071a0001c0001t0002g0076others(2): Show | 5 | 292 | 0.0171 | -8 | c.100 others(25): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUTM1_chr15_34338315_34362735 | 34351227 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(275): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0024a0001c0030others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0024t0001others(30): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0019others(203): Show | 278 | 454 | 0.6123 | -8 | c.938 others(23): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUTM2A_chr10_87220448_87239978 | 87236179 | GCTCAGGA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01070.hp2 others(53): Show |
a0001a0002 | a0001c0004a0001c0009a0001c0020others(15): Show | a0001c0004t0002a0001c0004t0005a0001c0009t0005others(18): Show | a0001c0004t0002g0005a0001c0004t0002g0023a0001c0004t0002g0061others(29): Show | 56 | 403 | 0.1390 | -8 | c.*14 others(19): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1202 | chr10 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16734734 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG02055.hp1 others(12): Show |
a0002a0004a0006others(3): Show | a0002c0001a0004c0005a0006c0014others(4): Show | a0002c0001t0001a0004c0005t0001a0006c0014t0002others(7): Show | a0002c0001t0001g0260a0002c0001t0001g0261a0002c0001t0001g0262others(12): Show | 15 | 300 | 0.0500 | -8 | c.82- others(23): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16735792 | TGGAAGGA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(69): Show |
a0001a0002a0003others(9): Show | a0001c0002a0002c0001a0003c0003others(16): Show | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(31): Show | a0001c0002t0002g0063a0001c0002t0003g0144a0001c0002t0003g0163others(69): Show | 72 | 300 | 0.2400 | -8 | c.82- others(21): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16747345 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(68): Show |
a0001a0003a0004others(16): Show | a0001c0035a0003c0006a0004c0005others(23): Show | a0001c0035t0002a0003c0006t0002a0004c0005t0001others(46): Show | a0001c0035t0002g0020a0003c0006t0002g0086a0004c0005t0001g0296others(68): Show | 71 | 300 | 0.2367 | -8 | c.497 others(25): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16754462 | TTCCATCC others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01361.hp1 others(29): Show |
a0004a0006a0008others(8): Show | a0004c0005a0006c0015a0008c0010others(8): Show | a0004c0005t0001a0004c0005t0006a0004c0005t0018others(19): Show | a0004c0005t0001g0296a0004c0005t0006g0211a0004c0005t0006g0225others(29): Show | 32 | 300 | 0.1067 | -8 | c.176 others(27): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16764361 | GTCCATCC others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(2): Show |
a0011 | a0011c0011 | a0011c0011t0001a0011c0011t0002a0011c0011t0011 | a0011c0011t0001g0247a0011c0011t0002g0022a0011c0011t0011g0017others(2): Show | 5 | 300 | 0.0167 | -8 | c.225 others(25): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16774466 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01257.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0012others(7): Show | a0001c0002t0003g0186a0001c0002t0004g0011a0001c0002t0012g0198others(15): Show | 18 | 300 | 0.0600 | -8 | c.260 others(27): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37242400 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0010t0002others(2): Show | a0001c0001t0002g0003a0001c0001t0003g0005a0001c0010t0002g0008others(4): Show | 7 | 296 | 0.0237 | -8 | c.-26 others(19): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2342 | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37348637 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(36): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0067others(36): Show | 39 | 296 | 0.1318 | -8 | c.241 others(25): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NXF2B_chrX_102355395_102445008 | 102377177 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 54 | 0.0185 | -8 | c.43+ others(23): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 3/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102384096 | TACAGATG others(1): Show |
T | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 54 | 0.0185 | -8 | c.-53 others(25): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102393544 | CTAAATAT others(1): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0025 | 2 | 54 | 0.0370 | -8 | c.-53 others(27): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102412543 | GAAGAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0029 | 2 | 54 | 0.0370 | -8 | c.-54 others(27): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102412546 | GAAGAAGA others(1): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 54 | 0.0185 | -8 | c.-54 others(27): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar |