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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0082others(32): Show | 41 | 370 | 0.1108 | 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 | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0272others(1): Show | 4 | 350 | 0.0114 | 9 | c.108 others(26): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | chr13 | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107173098 | T | TGTTGGAG others(2): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0258 | 1 | 280 | 0.0036 | 9 | c.58+ others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107185196 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 280 | 0.0036 | 9 | c.-48 others(26): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | 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 | a0001c0001t0002g0006a0001c0001t0002g0091a0001c0001t0003g0120others(17): Show | 20 | 280 | 0.0714 | 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 | a0001c0002t0001g0210a0001c0002t0001g0239a0001c0002t0001g0240others(6): Show | 9 | 276 | 0.0326 | 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 | a0001c0001t0001g0003a0001c0001t0001g0116a0001c0001t0001g0138others(24): Show | 27 | 378 | 0.0714 | 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 | a0001c0001t0001g0139a0001c0001t0001g0142a0001c0001t0001g0144others(20): Show | 24 | 378 | 0.0635 | 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 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0002 | a0002c0002t0002g0203a0002c0002t0002g0204a0002c0003t0002g0205 | 3 | 292 | 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 | a0002c0002t0001g0009a0002c0002t0001g0244a0002c0002t0001g0257others(4): Show | 8 | 292 | 0.0274 | 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(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0020a0001c0001t0001g0118a0001c0001t0001g0173others(7): Show | 12 | 454 | 0.0264 | 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(266): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0024a0002c0002others(32): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0017others(133): Show | 269 | 412 | 0.6529 | 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 |
a0007a0011a0017 | a0007c0007a0011c0011a0017c0019 | a0007c0007t0004a0011c0011t0004a0017c0019t0004 | a0007c0007t0004g0016a0007c0007t0004g0054a0007c0007t0004g0055others(3): Show | 8 | 374 | 0.0214 | 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 |
a0002a0019 | a0002c0002a0002c0018a0002c0021others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(3): Show | a0002c0002t0002g0007a0002c0002t0002g0008a0002c0002t0002g0011others(32): Show | 63 | 374 | 0.1685 | 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 | a0003c0003t0003g0288a0004c0005t0006g0226a0004c0005t0006g0227others(9): Show | 12 | 300 | 0.0400 | 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 |
a0004a0008a0046 | a0004c0005a0008c0010a0046c0062 | a0004c0005t0006a0008c0010t0010a0046c0062t0030 | a0004c0005t0006g0225a0008c0010t0010g0131a0046c0062t0030g0250 | 3 | 300 | 0.0100 | 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 |
a0014a0039a0041others(1): Show | a0014c0025a0039c0057a0041c0065others(1): Show | a0014c0025t0002a0039c0057t0026a0041c0065t0032others(1): Show | a0014c0025t0002g0048a0014c0025t0002g0049a0039c0057t0026g0202others(2): Show | 5 | 300 | 0.0167 | 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 |
a0004a0006a0008others(7): Show | a0004c0005a0004c0009a0006c0014others(8): Show | a0004c0005t0001a0004c0005t0018a0004c0005t0023others(17): Show | a0004c0005t0001g0296a0004c0005t0018g0256a0004c0005t0023g0094others(21): Show | 24 | 300 | 0.0800 | 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 | a0001c0001t0001g0288a0001c0001t0002g0024a0001c0001t0012g0080others(7): Show | 10 | 296 | 0.0338 | 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 | a0001c0001t0003g0193a0001c0002t0004g0073a0001c0002t0004g0086others(6): Show | 9 | 296 | 0.0304 | 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 | 102359043 | A | AGATGATG others(2): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 54 | 0.0185 | 9 | c.*15 others(20): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 1351 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102424524 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009 | 3 | 54 | 0.0556 | 9 | c.-54 others(28): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102435129 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0050 | 2 | 54 | 0.0370 | 9 | c.-54 others(26): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102440361 | T | TTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 54 | 0.0185 | 9 | c.-66 others(18): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 354 | chrX | TogoVar | ||||||
NXF2_chrX_102242167_102331722 | 102262564 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 38 | 0.0263 | 9 | c.-54 others(28): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NXF3_chrX_103070810_103098143 | 103090341 | A | ATTAGTAA others(2): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 314 | 0.0032 | 9 | c.28+ others(24): Show |
NXF3 | ENSG00000147206.17 | transcript | ENST00000395065.8 | protein_coding | 1/19 | 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 | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0054others(6): Show | 13 | 408 | 0.0319 | 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 | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0118others(4): Show | 7 | 242 | 0.0289 | 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 | a0001c0001t0001g0086a0001c0001t0003g0198a0001c0001t0005g0007others(2): Show | 5 | 242 | 0.0207 | 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(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0025others(91): Show | 94 | 242 | 0.3884 | 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(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0029others(46): Show | 49 | 242 | 0.2025 | 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 | a0002c0002t0001g0009a0002c0002t0001g0159 | 3 | 428 | 0.0070 | 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 | a0001c0001t0001g0134a0001c0001t0001g0159a0001c0001t0001g0165others(3): Show | 6 | 208 | 0.0289 | 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 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0028others(11): Show | 14 | 208 | 0.0673 | 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 | a0001c0001t0004g0001a0001c0002t0004g0057 | 3 | 382 | 0.0079 | 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 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0004a0001c0006t0004a0001c0007t0004 | a0001c0002t0004g0004a0001c0002t0004g0008a0001c0006t0004g0008others(1): Show | 7 | 366 | 0.0191 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(12): Show | a0001c0001t0001g0100a0001c0001t0001g0105a0001c0001t0004g0047others(18): Show | 21 | 192 | 0.1094 | 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 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0037a0001c0004t0002 | a0001c0002t0001g0082a0001c0002t0001g0106a0001c0002t0037g0030others(1): Show | 4 | 192 | 0.0208 | 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(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0008a0001c0004t0002 | a0001c0002t0001g0094a0001c0002t0001g0095a0001c0002t0001g0108others(4): Show | 7 | 192 | 0.0365 | 9 | c.193 others(30): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYX_chrX_41442343_41480652 | 41442448 | A | ATACCCCC others(2): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 310 | 0.0032 | 9 | c.-51 others(20): Show |
NYX | ENSG00000188937.7 | transcript | ENST00000378220.3 | protein_coding | 4894 | chrX | 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 | a0001c0001t0001g0013a0001c0001t0001g0206a0001c0001t0001g0219others(17): Show | 21 | 382 | 0.0550 | 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 | a0001c0001t0002g0157a0001c0001t0002g0158a0001c0001t0002g0162others(2): Show | 5 | 296 | 0.0169 | 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(209): Show |
a0002a0003a0005others(110): Show | a0002c0002a0002c0134a0002c0136others(136): Show | a0002c0002t0001a0002c0134t0001a0002c0136t0001others(137): Show | a0002c0002t0001g0084a0002c0002t0001g0085a0002c0002t0001g0088others(206): Show | 212 | 320 | 0.6625 | 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 | a0001c0001t0001g0077a0001c0001t0001g0099a0001c0001t0002g0017others(14): Show | 17 | 110 | 0.1546 | 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 | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0005g0108others(68): Show | 71 | 110 | 0.6455 | 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(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(199): Show | 209 | 290 | 0.7207 | 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(61): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0098others(59): Show | 64 | 290 | 0.2207 | 9 | c.103 others(24): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
OCRL_chrX_129535259_129597556 | 129536979 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 278 | 0.0036 | 9 | c.-34 others(20): Show |
OCRL | ENSG00000122126.18 | transcript | ENST00000371113.9 | protein_coding | 3279 | chrX | TogoVar | ||||||
OCRL_chrX_129535259_129597556 | 129571272 | T | TTTGGTTA others(2): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 278 | 0.0036 | 9 | c.160 others(28): Show |
OCRL | ENSG00000122126.18 | transcript | ENST00000371113.9 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
OCRL_chrX_129535259_129597556 | 129581831 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0042a0001c0001t0010g0229 | 2 | 278 | 0.0072 | 9 | c.211 others(28): Show |
OCRL | ENSG00000122126.18 | transcript | ENST00000371113.9 | protein_coding | 18/23 | chrX | TogoVar |