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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFATC1_chr18_79390930_79534323 | 79417598 | G | GTGGGAGA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03139.hp1 |
a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0289 a0001c0010t0004g0290 |
2 | 322 | 0.0062 | 24 | c.122 others(43): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79417792 | G | GTGGGAGA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00738.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(20): Show | a0001c0001t0001g0257 a0001c0001t0003g0143 a0001c0001t0003g0154 others(33): Show |
36 | 322 | 0.1118 | 24 | c.122 others(43): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79425271 | C | CTCTGTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01106.hp2 others(59): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0012a0001c0001t0014a0001c0005t0005others(35): Show | a0001c0001t0012g0190 a0001c0001t0014g0267 a0001c0005t0005g0056 others(59): Show |
62 | 322 | 0.1926 | 24 | c.122 others(43): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79518009 | T | TCCTAAAA others(17): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 | 1 | 322 | 0.0031 | 24 | c.278 others(43): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51455896 | G | GTGGGTGG others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01175.hp1 others(25): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0102 others(25): Show |
28 | 316 | 0.0886 | 24 | c.170 others(43): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
NFATC3_chr16_68080370_68234259 | 68104653 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0128 | 1 | 188 | 0.0053 | 24 | c.104 others(43): Show |
NFATC3 | ENSG00000072736.19 | transcript | ENST00000346183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFATC4_chr14_24363184_24384601 | 24384195 | A | AAAGTGGC others(17): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 394 | 0.0025 | 24 | c.*64 others(35): Show |
NFATC4 | ENSG00000100968.14 | transcript | ENST00000250373.9 | protein_coding | 4595 | chr14 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26177495 | G | GCCGAGGC others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 400 | 0.0025 | 24 | c.571 others(39): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61310764 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0006g0108 a0001c0001t0006g0136 a0001c0001t0008g0047 others(9): Show |
12 | 156 | 0.0769 | 24 | c.626 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61319790 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0083 | 1 | 156 | 0.0064 | 24 | c.626 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466702 | C | CATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0106 | 1 | 156 | 0.0064 | 24 | c.*11 others(37): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3915 | chr1 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14143991 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0027 | 1 | 304 | 0.0033 | 24 | c.925 others(41): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14217660 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 304 | 0.0033 | 24 | c.563 others(43): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCCCTC others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0112 | 1 | 300 | 0.0033 | 24 | c.30+ others(39): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3394513 | T | TCCCCCCC others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0058 | a0002c0003t0058g0200 | 1 | 300 | 0.0033 | 24 | c.562 others(43): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3417942 | C | CTGTTTCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(77): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(66): Show | a0001c0001t0001g0054 a0001c0001t0003g0041 a0001c0001t0003g0114 others(77): Show |
80 | 300 | 0.2667 | 24 | c.563 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3417942 | C | CTTTTTCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(162): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0025 others(184): Show |
187 | 300 | 0.6233 | 24 | c.563 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3420556 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0070 | 1 | 300 | 0.0033 | 24 | c.563 others(41): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3429253 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0011 | 1 | 300 | 0.0033 | 24 | c.634 others(41): 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(17): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0033a0001c0001t0034others(9): Show | a0001c0001t0019g0119 a0001c0001t0019g0139 a0001c0001t0033g0015 others(10): Show |
13 | 300 | 0.0433 | 24 | c.*49 others(35): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3467781 | A | ATATATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0197 | a0002c0003t0197g0274 | 1 | 300 | 0.0033 | 24 | c.*50 others(35): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3467788 | T | TACATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0252 a0001c0001t0021g0275 |
2 | 300 | 0.0067 | 24 | c.*50 others(35): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8653011 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0038a0002c0002t0093 | a0001c0001t0038g0333 a0002c0002t0093g0143 |
2 | 366 | 0.0055 | 24 | c.-16 others(45): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8653038 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0033 | a0003c0003t0033g0026 a0003c0003t0033g0028 |
2 | 366 | 0.0055 | 24 | c.-16 others(45): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8653039 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0023 | a0001c0001t0004g0057 a0002c0002t0023g0004 |
2 | 366 | 0.0055 | 24 | c.-16 others(45): 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(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0012 | 1 | 366 | 0.0027 | 24 | c.-16 others(45): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFKB1_chr4_102496359_102622302 | 102551367 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0193 | 1 | 328 | 0.0031 | 24 | c.258 others(43): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NFKBIA_chr14_35396513_35409749 | 35402235 | A | AGTAAGCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 462 | 0.0022 | 24 | c.906 others(39): Show |
NFKBIA | ENSG00000100906.12 | transcript | ENST00000216797.10 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
NFRKB_chr11_129858636_129900578 | 129889951 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0207 | 1 | 410 | 0.0024 | 24 | c.136 others(41): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
NFU1_chr2_69391126_69442435 | 69404615 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02572.hp1 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show |
6 | 368 | 0.0163 | 24 | c.545 others(41): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232887410 | A | ACTCTTGG others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0010a0001c0012t0010 | a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 others(6): Show |
9 | 362 | 0.0249 | 24 | c.134 others(41): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 9/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232944726 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0349 a0001c0002t0003g0298 |
2 | 362 | 0.0055 | 24 | c.384 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995022 | T | TACTGTAT others(17): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19012.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0085 a0001c0002t0003g0211 |
2 | 362 | 0.0055 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995056 | A | ATGTACAG others(17): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0058 | 1 | 362 | 0.0028 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995232 | G | GTATACAG others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(2): Show | a0001c0001t0002g0213 a0001c0001t0002g0274 a0001c0001t0006g0207 others(4): Show |
7 | 362 | 0.0193 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995232 | G | GTATACAG others(17): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 362 | 0.0028 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995274 | G | GCGTACAG others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0320 | 1 | 362 | 0.0028 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995274 | G | GTATACAG others(17): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0056 | 1 | 362 | 0.0028 | 24 | c.-75 others(43): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGFR_chr17_49490293_49520008 | 49502815 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230 | 1 | 426 | 0.0024 | 24 | c.208 others(39): Show |
NGFR | ENSG00000064300.9 | transcript | ENST00000172229.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NGF_chr1_115280917_115343249 | 115337267 | G | GTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 418 | 0.0024 | 24 | c.-13 others(41): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219080668 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0328 | 1 | 350 | 0.0029 | 24 | c.589 others(41): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219152789 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01361.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0021 | a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0247 others(7): Show |
10 | 350 | 0.0286 | 24 | c.390 others(41): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 3/7 | chr2 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 71994298 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 187 | 0.0054 | 24 | c.280 others(43): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72048987 | G | GAGAAGAA others(17): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02970.hp2 HG03453.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(3): Show | a0001c0001t0001g0047 a0001c0001t0004g0066 a0001c0001t0022g0052 others(3): Show |
6 | 187 | 0.0321 | 24 | c.281 others(43): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72049009 | A | AGAAGAAG others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG02970.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0001c0003t0084a0002c0002t0002 | a0001c0003t0012g0057 a0001c0003t0084g0150 a0002c0002t0002g0056 |
3 | 187 | 0.0160 | 24 | c.281 others(43): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72093712 | A | AGCTTGCT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0115 a0001c0001t0004g0014 |
2 | 187 | 0.0107 | 24 | c.281 others(43): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72093721 | G | GCTTGCTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 187 | 0.0054 | 24 | c.281 others(43): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17378059 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01934.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0144 others(9): Show |
12 | 164 | 0.0732 | 24 | c.565 others(41): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17524061 | A | ATTTGTCT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 164 | 0.0061 | 24 | c.565 others(45): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NHS_chrX_17370200_17740994 | 17541767 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 | 1 | 164 | 0.0061 | 24 | c.566 others(45): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |