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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0159 a0001c0001t0001g0230 a0001c0001t0005g0108 others(2): Show |
5 | 308 | 0.0162 | 19 | c.256 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928056 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02015.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0005g0215 |
3 | 308 | 0.0097 | 19 | c.256 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71928057 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0006 | a0006c0007 | a0006c0007t0015 | a0006c0007t0015g0075 | 1 | 308 | 0.0033 | 19 | c.256 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | AATTATAT others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0145 | 1 | 308 | 0.0033 | 19 | c.218 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956328 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0008 | a0008c0008 | a0008c0008t0005 | a0008c0008t0005g0205 | 1 | 308 | 0.0033 | 19 | c.218 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9A_chr15_71817291_72123150 | 71956330 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0023 | a0023c0016 | a0023c0016t0018 | a0023c0016t0018g0264 | 1 | 308 | 0.0033 | 19 | c.218 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | |||||||
MYO9B_chr19_17070777_17218286 | 17090157 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0073 | 1 | 262 | 0.0038 | 19 | c.-58 others(38): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12697360 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18747.hp2 NA18942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0039a0001c0002t0002 | a0001c0001t0002g0241 a0001c0001t0039g0178 a0001c0002t0002g0239 |
3 | 346 | 0.0087 | 19 | c.56- others(34): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 240 | 0.0042 | 19 | c.258 others(36): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93370314 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 240 | 0.0042 | 19 | c.245 others(36): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 24/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93478836 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0041 a0001c0015t0001g0109 |
2 | 240 | 0.0083 | 19 | c.88+ others(34): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93482844 | A | ATTATATA others(12): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 240 | 0.0042 | 19 | c.-65 others(28): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 511 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3064534 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01346.hp2 HG01515.hp2 others(1): Show |
a0004a0007a0009 | a0004c0045a0004c0114a0007c0016others(1): Show | a0004c0045t0001a0004c0114t0003a0007c0016t0001others(1): Show | a0004c0045t0001g0031 a0004c0114t0003g0211 a0007c0016t0001g0062 others(1): Show |
4 | 330 | 0.0121 | 19 | c.*27 others(30): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2272 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3072350 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0011 | a0011c0146 | a0011c0146t0003 | a0011c0146t0003g0204 | 1 | 330 | 0.0030 | 19 | c.470 others(36): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 36/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp2 HG03139.hp1 others(3): Show |
a0003a0008a0019others(3): Show | a0003c0004a0008c0008a0019c0028others(3): Show | a0003c0004t0001a0008c0008t0001a0019c0028t0001others(3): Show | a0003c0004t0001g0319 a0008c0008t0001g0104 a0019c0028t0001g0186 others(3): Show |
6 | 403 | 0.0149 | 19 | c.345 others(38): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134256 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 394 | 0.0025 | 19 | c.-17 others(30): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1575 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134264 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0064 others(43): Show |
61 | 394 | 0.1548 | 19 | c.-17 others(30): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1567 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134268 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0192 a0001c0001t0002g0255 a0001c0001t0004g0001 others(15): Show |
25 | 394 | 0.0635 | 19 | c.-17 others(30): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1563 | chr4 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119134280 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01934.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0015 a0001c0001t0007g0298 a0001c0001t0010g0041 |
6 | 394 | 0.0152 | 19 | c.-17 others(30): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 1551 | chr4 | TogoVar | |||||||
MYPOP_chr19_45885023_45907613 | 45891829 | C | CCTGCCAG others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0068 | 1 | 408 | 0.0025 | 19 | c.500 others(34): Show |
MYPOP | ENSG00000176182.6 | transcript | ENST00000322217.6 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69877024 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0275 | 1 | 322 | 0.0031 | 19 | c.138 others(36): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891602 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 322 | 0.0031 | 19 | c.903 others(34): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891605 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0305 | 1 | 322 | 0.0031 | 19 | c.903 others(34): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39972773 | T | TTCTAAAA others(12): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0005 | a0001c0001t0001g0056 a0001c0015t0005g0038 |
2 | 170 | 0.0118 | 19 | c.111 others(38): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58651409 | T | TGTGTGTG others(12): Show |
downstream_gene_variant | MODIFIER | NA19059.hp1 | a0012 | a0012c0010 | a0012c0010t0010 | a0012c0010t0010g0309 | 1 | 410 | 0.0024 | 19 | c.*85 others(30): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3333 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58651443 | T | TGTGTGTG others(12): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 410 | 0.0024 | 19 | c.*85 others(30): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3299 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0132 | 1 | 410 | 0.0024 | 19 | c.68+ others(34): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064 | 1 | 410 | 0.0024 | 19 | c.68+ others(34): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64201982 | C | CTCGCGTG others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025 | a0001c0001t0016g0067 a0001c0001t0025g0104 |
2 | 223 | 0.0090 | 19 | c.86+ others(34): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 4/22 | chr20 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57616822 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG02015.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0192 a0001c0001t0001g0266 a0001c0001t0001g0277 others(2): Show |
5 | 352 | 0.0142 | 19 | c.163 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57689172 | T | TATATATG others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(97): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0163 others(95): Show |
100 | 352 | 0.2841 | 19 | c.*46 others(30): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3809 | chr15 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48552699 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0188 a0001c0001t0020g0090 |
2 | 324 | 0.0062 | 19 | c.202 others(36): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40136379 | T | TATCTATC others(12): Show |
intron_variant | MODIFIER | HG01981.hp1 HG04199.hp1 NA19240.hp2 |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0006a0001c0001t0009a0010c0011t0006 | a0001c0001t0006g0217 a0001c0001t0009g0226 a0010c0011t0006g0230 |
3 | 366 | 0.0082 | 19 | c.464 others(36): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA11_chr4_79311647_79331061 | 79314641 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03579.hp1 NA18979.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 |
6 | 398 | 0.0151 | 19 | c.*31 others(30): Show |
NAA11 | ENSG00000156269.5 | transcript | ENST00000286794.5 | protein_coding | 2005 | chr4 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304296 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 19 | c.-52 others(30): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4892 | chr3 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304296 | A | AAATATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 19 | c.-52 others(30): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4892 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 174930614 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0036 | a0003c0004t0036g0047 | 1 | 64 | 0.0156 | 19 | c.43+ others(36): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175206263 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0034 | 1 | 64 | 0.0156 | 19 | c.546 others(38): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
NAB1_chr2_190644083_190697766 | 190692222 | G | GAAACATT others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0007 | 1 | 374 | 0.0027 | 19 | c.*18 others(30): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 10/10 | 1911 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NABP1_chr2_191673136_191691943 | 191674735 | A | ACGGGAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 394 | 0.0051 | 19 | c.-38 others(30): Show |
NABP1 | ENSG00000173559.15 | transcript | ENST00000425611.9 | protein_coding | 3400 | chr2 | TogoVar | |||||||
NABP1_chr2_191673136_191691943 | 191690439 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 394 | 0.0025 | 19 | c.*46 others(30): Show |
NABP1 | ENSG00000173559.15 | transcript | ENST00000425611.9 | protein_coding | 3497 | chr2 | TogoVar | |||||||
NABP1_chr2_191673136_191691943 | 191690439 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 394 | 0.0025 | 19 | c.*46 others(30): Show |
NABP1 | ENSG00000173559.15 | transcript | ENST00000425611.9 | protein_coding | 3497 | chr2 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107403188 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068 | 1 | 128 | 0.0078 | 19 | c.916 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107438827 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0109 | 1 | 128 | 0.0078 | 19 | c.916 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107612046 | A | AGGGAGAG others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(9): Show | a0001c0001t0005g0046 a0001c0001t0005g0059 a0001c0001t0005g0060 others(11): Show |
14 | 128 | 0.1094 | 19 | c.915 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107612074 | G | GAGGAGTG others(12): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp2 HG04228.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(6): Show | a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 others(6): Show |
9 | 128 | 0.0703 | 19 | c.915 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107612074 | G | GGGGAGTG others(12): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0092 | a0001c0001t0032g0016 a0001c0001t0092g0107 |
2 | 128 | 0.0156 | 19 | c.915 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107629619 | C | CTCATTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 others(64): Show |
67 | 128 | 0.5234 | 19 | c.915 others(40): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106267840 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0146 others(3): Show |
8 | 336 | 0.0238 | 19 | c.743 others(34): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
NANOGNB_chr12_7760216_7779121 | 7765569 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 460 | 0.0022 | 19 | c.102 others(34): Show |
NANOGNB | ENSG00000205857.2 | transcript | ENST00000382119.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |