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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP50_chr22_45158925_45193017 | 45161661 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA18973.hp2 NA18975.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0152 others(2): Show |
7 | 73 | 0.0959 | 9 | c.-26 others(20): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 2263 | chr22 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76118573 | T | TGGGGCGG others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp2 others(38): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0004t0004others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0079 others(31): Show |
41 | 122 | 0.3361 | 9 | c.116 others(26): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
NUP58_chr13_25296625_25347421 | 25305147 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18984.hp2 NA19001.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(1): Show |
4 | 85 | 0.0471 | 9 | c.108 others(26): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | chr13 | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107189613 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0012 a0001c0001t0002g0095 a0001c0001t0003g0001 others(15): Show |
20 | 143 | 0.1399 | 9 | c.-48 others(26): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
NUP85_chr17_75200679_75240758 | 75212247 | G | GTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02071.hp1 HG02074.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0221 a0001c0002t0001g0222 others(6): Show |
9 | 237 | 0.0380 | 9 | c.361 others(24): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815865 | A | ACTGCTGC others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01346.hp2 HG02071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0034others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0118 a0001c0001t0001g0140 others(24): Show |
27 | 88 | 0.3068 | 9 | c.490 others(26): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56827044 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01167.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 others(20): Show |
24 | 87 | 0.2759 | 9 | c.795 others(26): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUSAP1_chr15_41327881_41386046 | 41336659 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02258.hp2 HG02965.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0003g0203 |
3 | 290 | 0.0103 | 9 | c.93+ others(24): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
NUSAP1_chr15_41327881_41386046 | 41378944 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18522.hp1 NA18955.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0242 a0002c0002t0001g0255 others(4): Show |
8 | 43 | 0.1860 | 9 | c.123 others(28): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346881 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0020 a0001c0001t0001g0118 a0001c0001t0001g0162 others(6): Show |
11 | 195 | 0.0564 | 9 | c.100 others(24): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM2E_chr10_79821739_79855878 | 79826383 | G | GGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(265): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0014a0001c0024others(32): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(54): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(128): Show |
268 | 329 | 0.8146 | 9 | c.-37 others(20): Show |
NUTM2E | ENSG00000228570.8 | transcript | ENST00000429984.5 | protein_coding | 355 | chr10 | TogoVar | |||||||
NUTM2G_chr9_96923843_96944416 | 96939291 | T | TAGGAGAA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02895.hp1 others(5): Show |
a0007a0016a0030 | a0007c0007a0016c0011a0030c0019 | a0007c0007t0004a0016c0011t0004a0030c0019t0004 | a0007c0007t0004g0018 a0007c0007t0004g0052 a0007c0007t0004g0053 others(3): Show |
8 | 372 | 0.0215 | 9 | c.*14 others(18): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 7/7 | 146 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUTM2G_chr9_96923843_96944416 | 96939298 | A | AGGAGGGG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00621.hp1 others(60): Show |
a0002a0026 | a0002c0002a0002c0018a0002c0021others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(3): Show | a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0012 others(31): Show |
63 | 364 | 0.1731 | 9 | c.*15 others(18): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 7/7 | 163 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16732654 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG02258.hp1 others(9): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0005a0004c0009others(2): Show | a0003c0003t0003a0004c0005t0006a0004c0005t0018others(6): Show | a0003c0003t0003g0288 a0004c0005t0006g0226 a0004c0005t0006g0227 others(9): Show |
12 | 166 | 0.0723 | 9 | c.81+ others(24): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16738750 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03139.hp2 |
a0004a0009a0028 | a0004c0005a0009c0010a0028c0062 | a0004c0005t0006a0009c0010t0010a0028c0062t0030 | a0004c0005t0006g0225 a0009c0010t0010g0131 a0028c0062t0030g0250 |
3 | 298 | 0.0101 | 9 | c.198 others(26): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16790638 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02922.hp1 others(2): Show |
a0015a0029a0030others(1): Show | a0015c0025a0029c0065a0030c0066others(1): Show | a0015c0025t0002a0029c0065t0032a0030c0066t0008others(1): Show | a0015c0025t0002g0048 a0015c0025t0002g0049 a0029c0065t0032g0166 others(2): Show |
5 | 296 | 0.0169 | 9 | c.294 others(26): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16818417 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(21): Show |
a0004a0006a0007others(7): Show | a0004c0005a0004c0009a0006c0014others(8): Show | a0004c0005t0001a0004c0005t0018a0004c0005t0023others(17): Show | a0004c0005t0001g0296 a0004c0005t0018g0256 a0004c0005t0023g0094 others(21): Show |
24 | 285 | 0.0842 | 9 | c.*33 others(20): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 465 | chr19 | TogoVar | |||||||
NWD2_chr4_37239743_37454463 | 37394799 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0287 a0001c0001t0002g0025 a0001c0001t0012g0081 others(7): Show |
10 | 90 | 0.1111 | 9 | c.358 others(28): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37395584 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02071.hp1 HG02071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0002t0004a0001c0002t0008others(2): Show | a0001c0001t0003g0194 a0001c0002t0004g0074 a0001c0002t0004g0087 others(6): Show |
9 | 97 | 0.0928 | 9 | c.358 others(28): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102435129 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0050 |
2 | 3 | 0.6667 | 9 | c.-54 others(26): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17450797 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01256.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0054 others(6): Show |
13 | 185 | 0.0703 | 9 | c.*48 others(20): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 4627 | chr19 | TogoVar | |||||||
NXN_chr17_794310_984776 | 836963 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0118 others(4): Show |
7 | 161 | 0.0435 | 9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 884247 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0086 a0001c0001t0003g0199 a0001c0001t0005g0007 others(2): Show |
5 | 217 | 0.0230 | 9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 895795 | G | GCGACAGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0027 others(90): Show |
93 | 116 | 0.8017 | 9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 895795 | G | GCGGCAGA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 others(46): Show |
49 | 72 | 0.6806 | 9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPE2_chr11_114673527_114712069 | 114674126 | C | CAAACAAA others(2): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18960.hp1 NA19006.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0106 |
3 | 331 | 0.0091 | 9 | c.-44 others(20): Show |
NXPE2 | ENSG00000204361.10 | transcript | ENST00000389586.6 | protein_coding | 4400 | chr11 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8461836 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0165 others(3): Show |
6 | 138 | 0.0435 | 9 | c.54+ others(26): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8756316 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG01346.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0028 others(11): Show |
14 | 32 | 0.4375 | 9 | c.*45 others(20): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 3356 | chr7 | TogoVar | |||||||
NXPH4_chr12_57211794_57231449 | 57216833 | G | GCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01978.hp2 HG01981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0001 a0001c0002t0004g0057 |
3 | 27 | 0.1111 | 9 | c.-10 others(17): Show |
NXPH4 | ENSG00000182379.10 | transcript | ENST00000349394.6 | protein_coding | 1/2 | 96 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NYAP1_chr7_100478927_100499802 | 100497870 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02451.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0006 | a0001c0002t0004a0001c0005t0004a0001c0006t0004 | a0001c0002t0004g0004 a0001c0002t0004g0008 a0001c0005t0004g0008 others(1): Show |
7 | 309 | 0.0227 | 9 | c.*39 others(20): Show |
NYAP1 | ENSG00000166924.9 | transcript | ENST00000300179.7 | protein_coding | 3069 | chr7 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225412255 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0003g0046 others(18): Show |
21 | 62 | 0.3387 | 9 | c.221 others(26): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225599499 | G | GAGCACAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01109.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0037a0001c0003t0002 | a0001c0002t0001g0082 a0001c0002t0001g0106 a0001c0002t0037g0030 others(1): Show |
4 | 190 | 0.0211 | 9 | c.161 others(30): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225665807 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0008a0001c0003t0002 | a0001c0002t0001g0094 a0001c0002t0001g0108 a0001c0002t0001g0109 others(3): Show |
6 | 49 | 0.1224 | 9 | c.193 others(30): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OAT_chr10_124392303_124423923 | 124415072 | G | GAGACTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG02145.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0025 a0001c0001t0001g0197 a0001c0001t0001g0210 others(16): Show |
21 | 362 | 0.0580 | 9 | c.-29 others(26): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78612311 | C | CCTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 HG03195.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 others(2): Show |
5 | 176 | 0.0284 | 9 | c.*32 others(20): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 1977 | chr13 | TogoVar | |||||||
OBSCN_chr1_228203044_228383876 | 228258383 | G | GCAACAAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0003a0005others(109): Show | a0002c0002a0002c0135a0002c0137others(136): Show | a0002c0002t0001a0002c0135t0001a0002c0137t0001others(137): Show | a0002c0002t0001g0121 a0002c0002t0001g0154 a0002c0002t0001g0157 others(205): Show |
211 | 292 | 0.7226 | 9 | c.486 others(28): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 16/115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27770871 | C | CATCCCCT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp2 HG02257.hp2 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0002g0017 others(14): Show |
17 | 99 | 0.1717 | 9 | c.243 others(30): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27885761 | T | TGAGTATT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(68): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0005g0108 others(68): Show |
71 | 108 | 0.6574 | 9 | c.208 others(30): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69528411 | A | ACATGGTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(205): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(194): Show |
208 | 288 | 0.7222 | 9 | c.892 others(26): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | chr5 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69534901 | G | GGTTTTTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(60): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 others(56): Show |
63 | 288 | 0.2188 | 9 | c.103 others(24): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OCSTAMP_chr20_46535946_46555654 | 46542574 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01515.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0179 a0001c0002t0002g0090 a0001c0002t0003g0011 others(8): Show |
21 | 346 | 0.0607 | 9 | c.104 others(26): Show |
OCSTAMP | ENSG00000149635.3 | transcript | ENST00000279028.3 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
OCSTAMP_chr20_46535946_46555654 | 46555387 | C | CACACACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0019 others(3): Show |
6 | 427 | 0.0141 | 9 | c.-48 others(20): Show |
OCSTAMP | ENSG00000149635.3 | transcript | ENST00000279028.3 | protein_coding | 4734 | chr20 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27885795 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0010others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0109 others(143): Show |
146 | 300 | 0.4867 | 9 | c.261 others(30): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27885797 | T | TATATAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0001t0004a0001c0021t0004 | a0001c0001t0001g0301 a0001c0001t0004g0248 a0001c0001t0004g0249 others(1): Show |
4 | 302 | 0.0132 | 9 | c.261 others(30): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | |||||||
ODAD4_chr17_41925617_41971503 | 41931909 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01109.hp1 others(45): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0153 others(44): Show |
48 | 72 | 0.6667 | 9 | c.114 others(26): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ODAPH_chr4_75551066_75569817 | 75569499 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02055.hp2 NA18962.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0030 others(3): Show |
6 | 125 | 0.0480 | 9 | c.*50 others(20): Show |
ODAPH | ENSG00000174792.11 | transcript | ENST00000311623.9 | protein_coding | 4683 | chr4 | TogoVar | |||||||
ODF1_chr8_102546589_102566018 | 102547762 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(94): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(29): Show |
97 | 174 | 0.5575 | 9 | c.-39 others(20): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 3826 | chr8 | TogoVar | |||||||
ODF4_chr17_8334840_8351046 | 8339760 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02602.hp1 HG02622.hp2 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 a0002c0001t0001g0008 a0002c0001t0001g0030 others(1): Show |
9 | 190 | 0.0474 | 9 | c.-29 others(18): Show |
ODF4 | ENSG00000184650.11 | transcript | ENST00000328248.7 | protein_coding | 79 | chr17 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742387 | C | CACACACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(126): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0028a0004c0011others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(80): Show |
129 | 314 | 0.4108 | 9 | c.201 others(26): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174219006 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp2 HG01517.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0143 a0001c0001t0002g0163 a0001c0001t0004g0127 others(13): Show |
16 | 139 | 0.1151 | 9 | c.373 others(26): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar |