| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYOM2_chr8_2040046_2150456 | 2085800 | CGTGGCCC others(45): Show |
C | intron_variant | MODIFIER | NA19012.hp1 NA19240.hp1 |
a0001a0009 | a0001c0020a0009c0160 | a0001c0020t0001a0009c0160t0001 | a0001c0020t0001g0052a0009c0160t0001g0352 | 2 | 403 | 0.0050 | -52 | c.164 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085885 | CCCCCACA others(45): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0015 | a0015c0197 | a0015c0197t0001 | a0015c0197t0001g0051 | 1 | 403 | 0.0025 | -52 | c.164 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2086137 | GTGATCTC others(45): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 |
a0002a0004 | a0002c0034a0004c0153 | a0002c0034t0001a0004c0153t0001 | a0002c0034t0001g0384a0004c0153t0001g0126 | 2 | 403 | 0.0050 | -52 | c.164 others(69): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYRFL_chr12_69820227_69964097 | 69891585 | CTTTCTTT others(45): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0319a0001c0001t0003g0289a0001c0003t0001g0233others(7): Show | 10 | 322 | 0.0311 | -52 | c.903 others(67): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 1848275 | ACAGACAC others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0032others(66): Show | 69 | 104 | 0.6635 | -52 | c.277 others(71): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 19/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034502 | AACAATCT others(45): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02135.hp2 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0001g0052others(13): Show | 16 | 104 | 0.1539 | -52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034659 | AACAATCT others(45): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0058a0001c0001t0007g0029 | 2 | 104 | 0.0192 | -52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2035681 | CGGGTGCA others(45): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0002a0001c0002t0027a0001c0003t0017others(8): Show | a0001c0002t0002g0054a0001c0002t0027g0104a0001c0003t0017g0014others(8): Show | 11 | 104 | 0.1058 | -52 | c.-15 others(73): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687974 | TAATGTGT others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 352 | 0.0028 | -52 | c.*34 others(63): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2611 | chr15 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687977 | TGTGTGTA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 352 | 0.0028 | -52 | c.*34 others(63): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2614 | chr15 | TogoVar | ||||||
| NAA38_chr17_7851685_7862559 | 7852396 | GCTGGGGC others(45): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009 | 45 | 422 | 0.1066 | -52 | c.*42 others(63): Show |
NAA38 | ENSG00000183011.14 | transcript | ENST00000575771.6 | protein_coding | 4288 | chr17 | TogoVar | ||||||
| NAALAD2_chr11_90129663_90197894 | 90154882 | AATATATG others(45): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02486.hp1 others(10): Show |
a0002a0004 | a0002c0003a0004c0005a0004c0021 | a0002c0003t0004a0002c0003t0005a0004c0005t0001others(4): Show | a0002c0003t0004g0274a0002c0003t0005g0275a0004c0005t0001g0266others(10): Show | 13 | 364 | 0.0357 | -52 | c.796 others(69): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAPEPLD_chr7_103094776_103154099 | 103152015 | CCCCAATT others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0291 | 1 | 381 | 0.0026 | -52 | c.-32 others(63): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 2917 | chr7 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120431321 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0053a0001c0002t0056 | a0001c0002t0008g0002a0001c0002t0008g0055a0001c0002t0008g0061others(3): Show | 7 | 292 | 0.0240 | -52 | c.-29 others(71): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NCBP2AS2_chr3_196937674_196948543 | 196945887 | TCTGGGGC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 430 | 0.0023 | -52 | c.*28 others(63): Show |
NCBP2AS2 | ENSG00000270170.2 | transcript | ENST00000602845.2 | protein_coding | 2345 | chr3 | TogoVar | ||||||
| NCBP2L_chrX_107772733_107800829 | 107782248 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 303 | 0.0033 | -52 | c.-73 others(69): Show |
NCBP2L | ENSG00000170935.8 | transcript | ENST00000509000.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NCBP2_chr3_196930406_196947528 | 196945887 | TCTGGGGC others(45): Show |
T | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 420 | 0.0024 | -52 | c.-34 others(63): Show |
NCBP2 | ENSG00000114503.11 | transcript | ENST00000321256.10 | protein_coding | 3360 | chr3 | TogoVar | ||||||
| NCOA6_chr20_34709774_34830651 | 34817160 | AATGTATA others(45): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0124a0001c0001t0001g0125others(7): Show | 10 | 290 | 0.0345 | -52 | c.-16 others(71): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| NCOR1_chr17_16024157_16220534 | 16127235 | GCATATAT others(45): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 282 | 0.0036 | -52 | c.151 others(71): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 14/45 | chr17 | TogoVar | ||||||
| NCR3LG1_chr11_17346800_17382341 | 17362675 | CCTTCCTT others(45): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG04199.hp1 NA18952.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0179a0002c0002t0003g0180a0002c0002t0003g0181others(2): Show | 5 | 380 | 0.0132 | -52 | c.422 others(69): Show |
NCR3LG1 | ENSG00000188211.9 | transcript | ENST00000338965.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NEDD1_chr12_96902257_96958780 | 96956674 | ATGAACTT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 400 | 0.0025 | -52 | c.*46 others(63): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 2895 | chr12 | TogoVar | ||||||
| NEDD4L_chr18_58039226_58406539 | 58130404 | TTGACTGT others(45): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02132.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0037a0001c0001t0002g0077a0001c0001t0003g0014others(4): Show | 7 | 118 | 0.0593 | -52 | c.49- others(69): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NET1_chr10_5407557_5464056 | 5435490 | TAGATAGA others(45): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0028 | 1 | 380 | 0.0026 | -52 | c.255 others(69): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NFASC_chr1_204823652_205027822 | 204877016 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0039 | a0001c0001t0001a0001c0001t0033a0001c0002t0019others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0086a0001c0001t0033g0038others(3): Show | 6 | 226 | 0.0266 | -52 | c.-19 others(73): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFASC_chr1_204865862_205027822 | 204877016 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0036a0001c0002t0021others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0186a0001c0001t0036g0187others(3): Show | 6 | 264 | 0.0227 | -52 | c.-91 others(69): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79488249 | GGTGTGTG others(45): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01952.hp2 HG02280.hp1 others(3): Show |
a0001a0008 | a0001c0005a0001c0006a0001c0028others(2): Show | a0001c0005t0011a0001c0006t0002a0001c0028t0007others(2): Show | a0001c0005t0011g0131a0001c0005t0011g0134a0001c0006t0002g0307others(3): Show | 6 | 322 | 0.0186 | -52 | c.278 others(71): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8656392 | CGCAGCCC others(45): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0186 | 1 | 366 | 0.0027 | -52 | c.-16 others(73): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232899762 | ACAGTCAC others(45): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01993.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0053a0001c0001t0013g0054a0001c0001t0013g0055 | 3 | 362 | 0.0083 | -52 | c.829 others(69): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
| NHEJ1_chr2_219064357_219165815 | 219080589 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0155 | 1 | 350 | 0.0029 | -52 | c.589 others(69): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
| NKAIN2_chr6_123798865_124830640 | 124342419 | AAAACAAA others(45): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0024a0001c0001t0022g0048 | 2 | 66 | 0.0303 | -52 | c.193 others(71): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1004441 | GCACACAG others(45): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02738.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0206a0001c0001t0001g0207a0001c0001t0015g0117 | 3 | 319 | 0.0094 | -52 | c.-46 others(63): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 4360 | chr5 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1042572 | GTGAATGA others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG02004.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0003g0004others(10): Show | 15 | 319 | 0.0470 | -52 | c.*42 others(63): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3630 | chr5 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1042896 | GTGAGTTT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01928.hp2 others(17): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0003g0004others(15): Show | 20 | 319 | 0.0627 | -52 | c.*45 others(63): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3954 | chr5 | TogoVar | ||||||
| NLGN4X_chrX_5885042_6233867 | 6021041 | TCTCTCTC others(45): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 128 | 0.0078 | -52 | c.625 others(69): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 3/5 | chrX | TogoVar | ||||||
| NLRC5_chr16_56984557_57088520 | 57030386 | GGATGGAT others(45): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0087 | a0005c0087t0001 | a0005c0087t0001g0391 | 1 | 424 | 0.0024 | -52 | c.241 others(69): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 10/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NLRP2_chr19_54961374_55006138 | 54962706 | TCTCCTGC others(45): Show |
T | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 429 | 0.0023 | -52 | c.-37 others(63): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3667 | chr19 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55862203 | GACTATAG others(45): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(138): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0011others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(62): Show | a0001c0001t0001g0106a0001c0001t0001g0165a0001c0001t0005g0369others(136): Show | 141 | 424 | 0.3326 | -52 | c.218 others(68): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP4_chr19_55831540_55886855 | 55862212 | CTAAGTCT others(45): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA19084.hp1 NA19089.hp2 |
a0001a0004 | a0001c0005a0001c0011a0004c0004 | a0001c0005t0013a0001c0011t0001a0004c0004t0005 | a0001c0005t0013g0230a0001c0011t0001g0185a0004c0004t0005g0375 | 3 | 424 | 0.0071 | -52 | c.218 others(68): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP4_chr19_55831540_55886855 | 55862636 | TGTTTATT others(45): Show |
T | intron_variant | MODIFIER | HG00621.hp2 NA18978.hp1 NA18989.hp1 others(1): Show |
a0004a0005 | a0004c0004a0005c0012a0005c0041 | a0004c0004t0002a0005c0012t0001a0005c0012t0002others(1): Show | a0004c0004t0002g0298a0005c0012t0001g0021a0005c0012t0002g0128others(1): Show | 4 | 424 | 0.0094 | -52 | c.218 others(69): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NMNAT2_chr1_183243237_183423380 | 183389736 | AAAAGAAA others(45): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 258 | 0.0039 | -52 | c.85+ others(69): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| NOL10_chr2_10565754_10694975 | 10586229 | CACCAGTG others(45): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 372 | 0.0027 | -52 | c.184 others(71): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 19/20 | chr2 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32488773 | TCCTTCCT others(45): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0027 | 1 | 196 | 0.0051 | -52 | c.700 others(71): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32488775 | CTTCCTTC others(45): Show |
C | intron_variant | MODIFIER | HG03831.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073a0001c0001t0003g0132 | 2 | 196 | 0.0102 | -52 | c.700 others(71): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32488778 | CCTTCCTT others(45): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0003g0005a0001c0001t0004g0009a0001c0001t0008g0044others(3): Show | 6 | 196 | 0.0306 | -52 | c.700 others(71): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32488782 | CCTTCCTT others(45): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0181 | 1 | 196 | 0.0051 | -52 | c.700 others(71): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| NOXA1_chr9_137418393_137439406 | 137436339 | GGCCGGAT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02015.hp2 HG02027.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0004 | a0001c0001t0001a0001c0012t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0013others(11): Show | 25 | 404 | 0.0619 | -52 | c.*19 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1934 | chr9 | TogoVar | ||||||
| NOXA1_chr9_137418393_137439406 | 137436391 | TGCCGGAT others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG03669.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011a0002c0002t0001g0151 | 4 | 404 | 0.0099 | -52 | c.*20 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1986 | chr9 | TogoVar | ||||||
| NPC1_chr18_23526442_23591506 | 23572111 | TTAGTGTC others(45): Show |
T | frameshift_variant | HIGH | HG01346.hp1 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0161 | 1 | 378 | 0.0027 | -52 | c.198 others(59): Show |
p.Phe others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/25 | 412/4760 | 198/3837 | 66/1278 | chr18 | TogoVar | ||
| NPLOC4_chr17_81551887_81642112 | 81639618 | CCGGGCGC others(45): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0232 | 1 | 344 | 0.0029 | -52 | c.-27 others(63): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 2507 | chr17 | TogoVar | ||||||
| NPY4R_chr10_46456099_46470958 | 46466234 | TCTTTCTT others(45): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 290 | 0.0035 | -52 | c.-82 others(61): Show |
NPY4R | ENSG00000204174.8 | transcript | ENST00000374312.5 | protein_coding | 277 | chr10 | TogoVar |