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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NKX2-6_chr8_23696740_23711756 | 23708481 | C | CCTTCTTC others(41): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004a0001c0002t0004g0005 | 2 | 434 | 0.0046 | 48 | c.-18 others(59): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1726 | chr8 | TogoVar | ||||||
NKX2-6_chr8_23696740_23711756 | 23708489 | T | TTCTTCTT others(41): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 434 | 0.0023 | 48 | c.-18 others(59): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1734 | chr8 | TogoVar | ||||||
NKX2-6_chr8_23696740_23711756 | 23708574 | T | TCTTCTTC others(41): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004a0001c0002t0004g0014 | 2 | 434 | 0.0046 | 48 | c.-19 others(59): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1819 | chr8 | TogoVar | ||||||
NKX2-6_chr8_23696740_23711756 | 23708574 | T | TCTTCTTC others(41): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 NA18949.hp2 NA18981.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004a0001c0002t0004g0025 | 3 | 434 | 0.0069 | 48 | c.-19 others(59): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1819 | chr8 | TogoVar | ||||||
NLRP13_chr19_55890945_55937336 | 55930874 | T | TTTTATAT others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 NA20905.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0253a0001c0002t0001g0281a0003c0006t0001g0368 | 3 | 440 | 0.0068 | 48 | c.319 others(65): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
NMBR_chr6_142069484_142152122 | 142125421 | C | CCATATAC others(41): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02129.hp1 HG02572.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0005 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0004g0071a0001c0001t0004g0075a0001c0001t0007g0037others(10): Show | 13 | 330 | 0.0394 | 48 | c.-66 others(69): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 413 | 0.0024 | 48 | c.*48 others(59): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37847220 | A | AAGAAGAA others(41): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0009 | a0009c0031 | a0009c0031t0001 | a0009c0031t0001g0125 | 1 | 388 | 0.0026 | 48 | c.-17 others(59): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1376 | chr7 | TogoVar | ||||||
NMNAT2_chr1_183243237_183423380 | 183364655 | A | ATTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0255 | 1 | 258 | 0.0039 | 48 | c.85+ others(65): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
NMNAT3_chr3_139555191_139682972 | 139580236 | T | TCTCAGCT others(41): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01496.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0194others(11): Show | 14 | 322 | 0.0435 | 48 | c.110 others(65): Show |
NMNAT3 | ENSG00000163864.18 | transcript | ENST00000704800.1 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
NOB1_chr16_69736871_69759926 | 69738632 | A | ATGTATGT others(41): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 449 | 0.0022 | 48 | c.*36 others(59): Show |
NOB1 | ENSG00000141101.13 | transcript | ENST00000268802.10 | protein_coding | 3238 | chr16 | TogoVar | ||||||
NOC2L_chr1_939203_964256 | 939398 | G | GCCTCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0001a0001c0002t0001a0001c0023t0004 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0113others(2): Show | 9 | 422 | 0.0213 | 48 | c.*52 others(59): Show |
NOC2L | ENSG00000188976.11 | transcript | ENST00000327044.7 | protein_coding | 4804 | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162217267 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 182 | 0.0055 | 48 | c.177 others(67): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAG others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0149 | 1 | 182 | 0.0055 | 48 | c.178 others(67): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOS1AP_chr1_162064691_162375475 | 162264469 | C | CTCTCCTC others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0011a0001c0003t0010a0001c0004t0003others(1): Show | a0001c0001t0011g0003a0001c0003t0010g0078a0001c0004t0003g0130others(1): Show | 4 | 182 | 0.0220 | 48 | c.178 others(67): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535545 | C | CGGGGGCA others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0006 | a0006c0050 | a0006c0050t0023 | a0006c0050t0023g0134 | 1 | 324 | 0.0031 | 48 | c.140 others(65): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535804 | C | CCTGGGGC others(41): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0122 | 1 | 324 | 0.0031 | 48 | c.140 others(65): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH2NLA_chr1_146143865_146234021 | 146200438 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0028 | 1 | 60 | 0.0167 | 48 | c.-44 others(67): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
NOTCH2NLC_chr1_149385621_149476833 | 149390802 | A | AGGCGGCG others(41): Show |
disruptive_inframe_insertion | MODERATE | NA18969.hp1 | a0020 | a0020c0051 | a0020c0051t0003 | a0020c0051t0003g0165 | 1 | 260 | 0.0039 | 48 | c.44_ others(53): Show |
p.Gly others(59): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
NOTCH2NLC_chr1_149385621_149476833 | 149390829 | C | CGGCGGCG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG03491.hp1 HG03492.hp2 HG03688.hp2 |
a0020 | a0020c0018 | a0020c0018t0003a0020c0018t0018a0020c0018t0057 | a0020c0018t0003g0002a0020c0018t0018g0002a0020c0018t0057g0139 | 3 | 260 | 0.0115 | 48 | c.44_ others(53): Show |
p.Gly others(59): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
NOX1_chrX_100838324_100879359 | 100853332 | C | CTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 302 | 0.0033 | 48 | c.805 others(65): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100938569 | C | CCCCCCTT others(41): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 HG02922.hp2 |
a0001a0002a0006 | a0001c0001a0002c0005a0006c0019 | a0001c0001t0001a0002c0005t0002a0006c0019t0012 | a0001c0001t0001g0152a0002c0005t0002g0151a0006c0019t0012g0237 | 3 | 288 | 0.0104 | 48 | c.363 others(63): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33301306 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 92 | 0.0109 | 48 | c.386 others(67): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 92 | 0.0109 | 48 | c.386 others(67): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0059 | a0001c0003t0059g0049 | 1 | 92 | 0.0109 | 48 | c.386 others(67): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105607 | T | TGATGGGG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp2 NA18947.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 4 | 355 | 0.0113 | 48 | c.*22 others(57): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 222 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105607 | T | TGATGGGG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0118 | 1 | 355 | 0.0028 | 48 | c.*22 others(57): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 222 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105607 | T | TGATGGGG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01943.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0083 | a0001c0001t0002g0002a0001c0001t0083g0116 | 27 | 355 | 0.0761 | 48 | c.*22 others(57): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 222 | chr20 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105613 | G | GGGTGATG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062 | a0001c0001t0061g0098a0001c0001t0062g0099 | 2 | 355 | 0.0056 | 48 | c.*21 others(57): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 216 | chr20 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28639444 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18522.hp1 |
a0009a0043 | a0009c0010a0043c0055 | a0009c0010t0003a0043c0055t0003 | a0009c0010t0003g0329a0043c0055t0003g0330 | 2 | 351 | 0.0057 | 48 | c.120 others(63): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB8_chr16_28633065_28663744 | 28639444 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0044 | a0044c0054 | a0044c0054t0003 | a0044c0054t0003g0333 | 1 | 351 | 0.0029 | 48 | c.120 others(63): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34663067 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0167 | 1 | 260 | 0.0039 | 48 | c.147 others(65): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPY4R2_chr10_47913662_47928524 | 47918383 | G | GAGAAAGA others(41): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 276 | 0.0036 | 48 | c.-77 others(57): Show |
NPY4R2 | ENSG00000264717.6 | transcript | ENST00000576178.7 | protein_coding | 278 | chr10 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82491293 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0033others(5): Show | 8 | 66 | 0.1212 | 48 | c.953 others(69): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NRIP1_chr21_14956235_15070000 | 15031126 | C | CACTCTGG others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02145.hp1 HG02723.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0003c0005t0013 | a0001c0001t0004g0089a0003c0005t0013g0002a0003c0005t0013g0017others(2): Show | 6 | 398 | 0.0151 | 48 | c.-45 others(69): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
NRIP2_chr12_2820348_2840035 | 2828160 | T | TGGGGGGG others(41): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 422 | 0.0024 | 48 | c.579 others(63): Show |
NRIP2 | ENSG00000053702.15 | transcript | ENST00000337508.9 | protein_coding | 3/5 | chr12 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150816 | C | CAAGAAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG04199.hp2 NA18612.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0050 | a0001c0001t0001g0033a0001c0001t0001g0126a0001c0001t0001g0137others(6): Show | 11 | 406 | 0.0271 | 48 | c.*48 others(59): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3287 | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150850 | A | AGAAAGAA others(41): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0157 | 1 | 406 | 0.0025 | 48 | c.*49 others(59): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3321 | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150881 | A | AAGAAAGA others(41): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 406 | 0.0049 | 48 | c.*49 others(59): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3352 | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150884 | A | AAAGAAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 406 | 0.0025 | 48 | c.*49 others(59): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3355 | chr6 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50277391 | T | TCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0051 | 1 | 116 | 0.0086 | 48 | c.336 others(69): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50277391 | T | TCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0036a0001c0001t0046others(6): Show | a0001c0001t0003g0020a0001c0001t0036g0062a0001c0001t0046g0039others(8): Show | 11 | 116 | 0.0948 | 48 | c.336 others(69): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50334209 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0003 | 1 | 116 | 0.0086 | 48 | c.336 others(69): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50373679 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0056 | 1 | 116 | 0.0086 | 48 | c.336 others(69): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 | 1 | 116 | 0.0086 | 48 | c.833 others(67): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18948.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0094a0001c0002t0007g0089 | 2 | 116 | 0.0172 | 48 | c.833 others(67): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78235002 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 | 1 | 24 | 0.0417 | 48 | c.-70 others(67): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NRXN3_chr14_78165373_79873291 | 79257382 | G | GTGGTGGT others(41): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0010 | 1 | 24 | 0.0417 | 48 | c.326 others(71): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NRXN3_chr14_78165373_79873291 | 79257544 | G | GTGGTGGT others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0016 | 1 | 24 | 0.0417 | 48 | c.326 others(71): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NSA2_chr5_74762249_74785113 | 74784510 | C | CAAAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 402 | 0.0025 | 48 | c.*78 others(59): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 4398 | chr5 | TogoVar |