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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NIPAL2_chr8_98184826_98299235 | 98280761 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 37 | 0.0270 | 34 | c.135 others(53): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
NIPAL3_chr1_24410802_24477976 | 24428258 | A | AAGAGAGA others(27): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0106 | 1 | 25 | 0.0400 | 34 | c.93+ others(49): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NKAIN1_chr1_31174745_31244887 | 31232396 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 240 | 0.0042 | 34 | c.54+ others(49): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN1_chr1_31174745_31244887 | 31232424 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0065 a0001c0001t0003g0311 |
2 | 108 | 0.0185 | 34 | c.54+ others(49): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN1_chr1_31174745_31244887 | 31232424 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 108 | 0.0185 | 34 | c.54+ others(49): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN1_chr1_31174745_31244887 | 31232424 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 107 | 0.0093 | 34 | c.54+ others(49): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN1_chr1_31174745_31244887 | 31232424 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01106.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0072 a0001c0001t0003g0079 |
2 | 108 | 0.0185 | 34 | c.54+ others(49): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124806815 | C | CAAAAGGA others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0014 a0001c0001t0003g0001 a0001c0001t0003g0033 others(4): Show |
7 | 66 | 0.1061 | 34 | c.536 others(53): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62845285 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0071 | 1 | 22 | 0.0455 | 34 | c.472 others(53): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62870391 | A | AATATACA others(27): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02965.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0042a0001c0001t0091 | a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0042g0063 others(1): Show |
4 | 144 | 0.0278 | 34 | c.472 others(53): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62883457 | G | GTTGTTGT others(27): Show |
intron_variant | MODIFIER | HG01517.hp2 HG03239.hp1 NA18943.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0065a0002c0003t0010a0002c0003t0039others(1): Show | a0001c0001t0065g0001 a0002c0003t0010g0039 a0002c0003t0039g0052 others(1): Show |
4 | 21 | 0.1905 | 34 | c.472 others(53): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKTR_chr3_42595686_42653735 | 42598916 | T | TATCTATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0010 | 1 | 349 | 0.0029 | 34 | c.-18 others(45): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 1769 | chr3 | TogoVar | |||||||
NKTR_chr3_42595686_42653735 | 42598916 | T | TATCTATA others(27): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0012 | a0012c0023 | a0012c0023t0004 | a0012c0023t0004g0054 | 1 | 349 | 0.0029 | 34 | c.-18 others(45): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 1769 | chr3 | TogoVar | |||||||
NKTR_chr3_42595686_42653735 | 42598930 | T | TAGATATC others(27): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02451.hp1 HG02630.hp1 others(10): Show |
a0003a0010 | a0003c0002a0003c0019a0010c0018 | a0003c0002t0006a0003c0019t0006a0010c0018t0006 | a0003c0002t0006g0004 a0003c0002t0006g0010 a0003c0002t0006g0056 others(4): Show |
13 | 234 | 0.0556 | 34 | c.-18 others(45): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 1755 | chr3 | TogoVar | |||||||
NKX1-2_chr10_124440243_124455035 | 124444486 | C | CAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG03017.hp2 NA19056.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0006 | 3 | 348 | 0.0086 | 34 | c.*29 others(45): Show |
NKX1-2 | ENSG00000229544.9 | transcript | ENST00000451024.5 | protein_coding | 756 | chr10 | TogoVar | |||||||
NLGN1_chr3_173392744_174299372 | 174201548 | A | AATGTCAG others(27): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG02055.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0002g0039 others(21): Show |
24 | 44 | 0.5455 | 34 | c.707 others(53): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NLRC4_chr2_32219453_32269886 | 32261316 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 195 | 0.0051 | 34 | c.-11 others(53): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
NLRC5_chr16_56984557_57088520 | 56993123 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0110 | 1 | 324 | 0.0031 | 34 | c.-12 others(53): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NLRC5_chr16_56984557_57088520 | 56993123 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(94): Show |
a0001a0002a0003others(19): Show | a0001c0003a0001c0006a0001c0012others(37): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0013others(53): Show | a0001c0003t0001g0080 a0001c0003t0001g0094 a0001c0003t0001g0095 others(93): Show |
97 | 420 | 0.2310 | 34 | c.-12 others(53): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NLRP12_chr19_53788741_53829314 | 53819698 | C | CACGTATA others(27): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03209.hp2 others(2): Show |
a0001a0004a0016 | a0001c0002a0004c0010a0016c0024 | a0001c0002t0001a0004c0010t0007a0016c0024t0002 | a0001c0002t0001g0389 a0004c0010t0007g0097 a0004c0010t0007g0099 others(2): Show |
5 | 135 | 0.0370 | 34 | c.289 others(51): Show |
NLRP12 | ENSG00000142405.23 | transcript | ENST00000324134.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55930874 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0366 | 1 | 311 | 0.0032 | 34 | c.319 others(51): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54984485 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0242 | 1 | 65 | 0.0154 | 34 | c.203 others(51): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55838035 | C | CCAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01981.hp1 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0003a0003c0007others(2): Show | a0002c0002t0002a0002c0003t0007a0002c0003t0012others(3): Show | a0002c0002t0002g0239 a0002c0003t0007g0011 a0002c0003t0012g0227 others(4): Show |
7 | 335 | 0.0209 | 34 | c.-66 others(51): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998716 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(30): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(17): Show | a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0216 others(30): Show |
33 | 370 | 0.0892 | 34 | c.-10 others(45): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1009 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998722 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0042 | a0042c0058 | a0042c0058t0002 | a0042c0058t0002g0169 | 1 | 394 | 0.0025 | 34 | c.-10 others(45): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1003 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993372 | T | TCCCCTCC others(27): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0030 | a0002c0030t0039 | a0002c0030t0039g0220 | 1 | 341 | 0.0029 | 34 | c.*54 others(45): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4744 | chr19 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142079104 | G | GAGAAAGA others(27): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01517.hp1 HG01981.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(18): Show |
25 | 200 | 0.1250 | 34 | c.423 others(49): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 185 | 0.0108 | 34 | c.*48 others(45): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME7_chr1_169127531_169372797 | 169355224 | G | GATATAAT others(27): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 182 | 0.0055 | 34 | c.3+1 others(49): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37882643 | G | GAAAGAGA others(27): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 214 | 0.0047 | 34 | c.995 others(51): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NMT2_chr10_15100770_15173693 | 15113463 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0113 | 1 | 119 | 0.0084 | 34 | c.117 others(51): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
NMUR2_chr5_152386546_152410279 | 152397012 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0068 | 1 | 267 | 0.0037 | 34 | c.811 others(51): Show |
NMUR2 | ENSG00000132911.5 | transcript | ENST00000255262.4 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
NMUR2_chr5_152386546_152410279 | 152407839 | G | GTATATTA others(27): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 412 | 0.0024 | 34 | c.-27 others(45): Show |
NMUR2 | ENSG00000132911.5 | transcript | ENST00000255262.4 | protein_coding | 2561 | chr5 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10587204 | C | CACATATA others(27): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18947.hp1 NA18997.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0196 a0001c0001t0001g0201 others(1): Show |
4 | 361 | 0.0111 | 34 | c.184 others(53): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 19/20 | chr2 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 33886771 | C | CTATATAT others(27): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 155 | 0.0065 | 34 | c.154 others(53): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 33886809 | A | ATAGATAT others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 166 | 0.0060 | 34 | c.154 others(53): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 33886953 | T | TTATATCT others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0149 others(3): Show |
6 | 166 | 0.0361 | 34 | c.154 others(53): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 9/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34024194 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 35 | 0.0286 | 34 | c.773 others(51): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 61 | 0.0164 | 34 | c.180 others(51): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 61 | 0.0164 | 34 | c.180 others(51): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 61 | 0.0164 | 34 | c.180 others(51): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2960822 | T | TTAATATT others(27): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0023 | a0002c0002t0001g0094 a0002c0002t0001g0229 a0002c0002t0003g0101 others(1): Show |
4 | 295 | 0.0136 | 34 | c.195 others(51): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162217267 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0003a0001c0003t0006others(1): Show | a0001c0002t0001g0042 a0001c0003t0003g0076 a0001c0003t0006g0106 others(1): Show |
4 | 28 | 0.1429 | 34 | c.177 others(53): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS3_chr7_150986017_151019588 | 150995732 | A | ACCCCTCC others(27): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 380 | 0.0026 | 34 | c.270 others(49): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOS3_chr7_150986017_151019588 | 150995988 | T | TCCCTGCA others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0034 | a0002c0034t0001 | a0002c0034t0001g0111 | 1 | 375 | 0.0027 | 34 | c.271 others(49): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041055 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03831.hp2 NA18991.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 |
3 | 158 | 0.0190 | 34 | c.74- others(51): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH2_chr1_119906553_120074662 | 120041057 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0162 | 1 | 149 | 0.0067 | 34 | c.74- others(51): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH2_chr1_119906553_120074662 | 120041069 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03130.hp1 |
a0001a0003 | a0001c0002a0003c0009 | a0001c0002t0002a0003c0009t0002 | a0001c0002t0002g0020 a0003c0009t0002g0033 |
2 | 100 | 0.0200 | 34 | c.74- others(51): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTUM_chr17_81947507_81966187 | 81952339 | G | GGGAGAGG others(27): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0052 | 1 | 382 | 0.0026 | 34 | c.*62 others(43): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 167 | chr17 | TogoVar | |||||||
NOTUM_chr17_81947507_81966187 | 81952348 | G | GGGAGGGG others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(20): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0010c0011t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(5): Show |
23 | 220 | 0.1045 | 34 | c.*61 others(43): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 158 | chr17 | TogoVar |