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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NELL1_chr11_20664586_21580686 | 21232157 | A | ATAAAATA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0084a0001c0005t0001g0030 | 2 | 88 | 0.0227 | 26 | c.154 others(45): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 14/19 | chr11 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 158 | 0.0063 | 26 | c.166 others(47): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 158 | 0.0063 | 26 | c.166 others(47): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44644580 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0152 | 1 | 158 | 0.0063 | 26 | c.144 others(47): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NEMF_chr14_49777083_49857788 | 49806232 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122a0001c0001t0002g0021a0001c0001t0002g0086 | 3 | 222 | 0.0135 | 26 | c.174 others(42): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 18/32 | chr14 | TogoVar | ||||||
NEO1_chr15_73047463_73310205 | 73257132 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 324 | 0.0031 | 26 | c.209 others(45): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73295125 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 324 | 0.0031 | 26 | c.390 others(45): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NETO1_chr18_72738756_72872987 | 72751050 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0125 | 1 | 348 | 0.0029 | 26 | c.983 others(41): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 8/10 | chr18 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 NA18975.hp2 NA19082.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0004a0001c0002t0020 | a0001c0001t0017g0118a0001c0002t0004g0217a0001c0002t0020g0251 | 3 | 312 | 0.0096 | 26 | c.*62 others(37): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0004 | a0001c0001t0023g0296a0001c0002t0004g0253 | 2 | 312 | 0.0064 | 26 | c.*62 others(37): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596685 | T | TCTCTCTC others(19): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 312 | 0.0032 | 26 | c.*63 others(37): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4140 | chr10 | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74796236 | A | ATATATAC others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | 224 | 0.0089 | 26 | c.-47 others(45): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74903325 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 224 | 0.0045 | 26 | c.-48 others(45): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31226318 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0027a0001c0001t0001g0066a0001c0008t0001g0146 | 3 | 252 | 0.0119 | 26 | c.200 others(42): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31243184 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0082others(2): Show | 5 | 252 | 0.0198 | 26 | c.397 others(45): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 29/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31243191 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 252 | 0.0040 | 26 | c.397 others(45): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 29/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31322501 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 252 | 0.0040 | 26 | c.483 others(45): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69568344 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0332a0001c0001t0011g0333a0001c0001t0011g0334 | 3 | 380 | 0.0079 | 26 | c.74- others(39): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 380 | 0.0026 | 26 | c.74- others(39): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69568346 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 380 | 0.0026 | 26 | c.74- others(39): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69568346 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01515.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | 380 | 0.0105 | 26 | c.74- others(39): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69688202 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 380 | 0.0026 | 26 | c.177 others(45): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFATC2_chr20_51381963_51547719 | 51457634 | C | CAGTGAGA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0003a0001c0001t0001g0047a0001c0001t0001g0058others(218): Show | 221 | 316 | 0.6994 | 26 | c.170 others(45): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
NFATC3_chr16_68080370_68234259 | 68088482 | G | GTATATAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(42): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(7): Show | a0001c0001t0002g0132a0001c0001t0002g0133a0001c0001t0002g0135others(42): Show | 45 | 188 | 0.2394 | 26 | c.103 others(43): Show |
NFATC3 | ENSG00000072736.19 | transcript | ENST00000346183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFIA_chr1_61077561_61467788 | 61310764 | T | TCCTTCCT others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0118 | 1 | 156 | 0.0064 | 26 | c.626 others(45): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466738 | C | CACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0152 | 1 | 156 | 0.0064 | 26 | c.*11 others(39): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3951 | chr1 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCCCTC others(19): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0218 | a0001c0001t0218g0149 | 1 | 300 | 0.0033 | 26 | c.30+ others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3429253 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0061 | a0001c0001t0004g0221a0001c0001t0061g0191 | 2 | 300 | 0.0067 | 26 | c.634 others(43): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3467758 | C | CATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02080.hp1 HG02257.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0131a0002c0003t0031 | a0001c0001t0131g0179a0002c0003t0031g0131 | 2 | 300 | 0.0067 | 26 | c.*49 others(37): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NFIC_chr19_3361583_3474217 | 3467788 | T | TATACATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0212 | a0001c0001t0212g0232 | 1 | 300 | 0.0033 | 26 | c.*50 others(37): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NFILZ_chr19_8625633_8686151 | 8661104 | T | TTCCTTCC others(19): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03486.hp2 NA19030.hp2 |
a0001a0008a0010 | a0001c0001a0008c0010a0010c0009 | a0001c0001t0016a0008c0010t0116a0010c0009t0130 | a0001c0001t0016g0009a0008c0010t0116g0110a0010c0009t0130g0135 | 3 | 366 | 0.0082 | 26 | c.-16 others(47): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663750 | G | GTGTATGT others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0014 | a0014c0012 | a0014c0012t0085 | a0014c0012t0085g0059 | 1 | 366 | 0.0027 | 26 | c.-16 others(47): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFRKB_chr11_129858636_129900578 | 129881555 | A | AGGTTTGT others(19): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0117 | 1 | 410 | 0.0024 | 26 | c.131 others(41): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 12/26 | chr11 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69404615 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0357a0002c0002t0001g0358 | 2 | 368 | 0.0054 | 26 | c.545 others(43): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69424198 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 368 | 0.0027 | 26 | c.167 others(41): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69424198 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 368 | 0.0027 | 26 | c.167 others(41): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
NFYB_chr12_104112086_104143210 | 104135522 | G | GTGATTTC others(19): Show |
5_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 | 1 | 394 | 0.0025 | 26 | c.-79 others(36): Show |
NFYB | ENSG00000120837.8 | transcript | ENST00000240055.8 | protein_coding | 2/8 | 70 | chr12 | TogoVar | |||||
NGB_chr14_77260483_77276206 | 77269736 | T | TCCCTCCC others(19): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 366 | 0.0027 | 26 | c.90- others(39): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896700 | A | AGGGGTGG others(19): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0079 | 1 | 362 | 0.0028 | 26 | c.829 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995550 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0258 | 1 | 362 | 0.0028 | 26 | c.-75 others(45): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGF_chr1_115280917_115343249 | 115337267 | G | GTTTGTTT others(19): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 418 | 0.0024 | 26 | c.-13 others(43): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
NGF_chr1_115280917_115343249 | 115337267 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 418 | 0.0024 | 26 | c.-13 others(43): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
NHEJ1_chr2_219064357_219165815 | 219080589 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 350 | 0.0029 | 26 | c.589 others(43): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
NHSL1_chr6_138417043_138504494 | 138437377 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0021 | a0001c0003t0007g0129a0001c0003t0007g0159a0001c0003t0007g0163others(4): Show | 7 | 332 | 0.0211 | 26 | c.665 others(43): Show |
NHSL1 | ENSG00000135540.12 | transcript | ENST00000343505.10 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17378059 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01975.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(2): Show | a0001c0001t0001g0151a0001c0001t0001g0153a0001c0001t0017g0154others(4): Show | 7 | 164 | 0.0427 | 26 | c.565 others(43): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NHS_chrX_17370200_17740994 | 17723770 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0159 | 1 | 164 | 0.0061 | 26 | c.110 others(43): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NHS_chrX_17370200_17740994 | 17723770 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 164 | 0.0061 | 26 | c.110 others(43): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NID2_chr14_51999809_52074059 | 52030481 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0014 | a0014c0056 | a0014c0056t0001 | a0014c0056t0001g0334 | 1 | 372 | 0.0027 | 26 | c.225 others(43): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
NID2_chr14_51999809_52074059 | 52035856 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19004.hp2 NA19084.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085a0002c0004t0001g0164a0002c0004t0001g0166 | 3 | 372 | 0.0081 | 26 | c.225 others(45): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | ||||||
NID2_chr14_51999809_52074059 | 52035878 | A | ATACATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(119): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(110): Show | 122 | 372 | 0.3280 | 26 | c.225 others(45): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar |