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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO3B_chr2_170173147_170660167 | 170474743 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA19063.hp1 NA19084.hp1 |
a0002a0012 | a0002c0032a0012c0045a0012c0054 | a0002c0032t0001a0012c0045t0001a0012c0054t0003 | a0002c0032t0001g0023 a0012c0045t0001g0015 a0012c0054t0003g0031 |
3 | 25 | 0.1200 | -26 | c.301 others(45): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170648942 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18951.hp1 NA19065.hp2 |
a0002a0007 | a0002c0006a0002c0010a0007c0009 | a0002c0006t0001a0002c0010t0001a0007c0009t0005 | a0002c0006t0001g0017 a0002c0010t0001g0108 a0007c0009t0005g0046 |
3 | 170 | 0.0176 | -26 | c.373 others(45): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649124 | GTATATAA others(19): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0004 | a0004c0073 | a0004c0073t0001 | a0004c0073t0001g0088 | 1 | 114 | 0.0088 | -26 | c.373 others(45): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649189 | TATATATT others(19): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0072 a0007c0009t0001g0028 |
2 | 145 | 0.0138 | -26 | c.373 others(45): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649299 | AATAATAT others(19): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0076 | 1 | 158 | 0.0063 | -26 | c.373 others(45): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 49953894 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | NA18966.hp1 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 a0001c0002t0002g0180 |
2 | 69 | 0.0290 | -26 | c.166 others(43): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 13/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50043493 | ATATATAA others(19): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA19030.hp2 |
a0001a0002 | a0001c0002a0002c0064 | a0001c0002t0005a0002c0064t0014 | a0001c0002t0005g0160 a0002c0064t0014g0109 |
2 | 236 | 0.0085 | -26 | c.139 others(43): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122634 | GGAGAGAG others(19): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02135.hp1 NA18941.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0188 a0002c0003t0002g0179 a0002c0003t0002g0184 others(3): Show |
6 | 145 | 0.0414 | -26 | c.28- others(43): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50145497 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 others(41): Show |
44 | 45 | 0.9778 | -26 | c.27+ others(43): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75787706 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0140 | 1 | 350 | 0.0029 | -26 | c.-47 others(45): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA18944.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0247 a0001c0001t0001g0249 |
3 | 12 | 0.2500 | -26 | c.-58 others(45): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17130635 | TTAACCAG others(19): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0104 | 1 | 260 | 0.0038 | -26 | c.841 others(45): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYOCD_chr17_12660890_12773949 | 12688528 | TCTTCCTT others(19): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(96): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0028 a0001c0001t0002g0241 a0001c0001t0002g0242 others(95): Show |
99 | 340 | 0.2912 | -26 | c.56- others(43): Show |
MYOCD | ENSG00000141052.18 | transcript | ENST00000425538.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93482845 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0025 | 1 | 100 | 0.0100 | -26 | c.-67 others(35): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 512 | chr10 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3113298 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0321 | 1 | 27 | 0.0370 | -26 | c.330 others(43): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 21/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3124444 | ACCACTCC others(19): Show |
A | intron_variant | MODIFIER | HG02897.hp2 HG02922.hp2 |
a0002a0016 | a0002c0049a0016c0190 | a0002c0049t0001a0016c0190t0009 | a0002c0049t0001g0123 a0016c0190t0009g0038 |
2 | 328 | 0.0061 | -26 | c.299 others(45): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 19/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3186784 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0110 | a0004c0110t0001 | a0004c0110t0001g0001 | 1 | 328 | 0.0030 | -26 | c.929 others(41): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 5/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2041509 | AAAATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02886.hp1 |
a0015a0066 | a0015c0173a0066c0130 | a0015c0173t0002a0066c0130t0001 | a0015c0173t0002g0024 a0066c0130t0001g0358 |
2 | 328 | 0.0061 | -26 | c.-36 others(37): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3536 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086146 | GCGTGGCC others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0101 | a0005c0101t0007 | a0005c0101t0007g0079 | 1 | 392 | 0.0026 | -26 | c.164 others(43): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2100104 | CCTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0117 | a0001c0117t0004 | a0001c0117t0004g0285 | 1 | 402 | 0.0025 | -26 | c.244 others(43): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | chr8 | TogoVar | |||||||
MYOM3_chr1_24051041_24117135 | 24113266 | TTCTTTCT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0056 a0008c0009t0002g0059 |
2 | 336 | 0.0060 | -26 | c.-12 others(37): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1132 | chr1 | TogoVar | |||||||
MYOZ1_chr10_73626612_73646474 | 73643765 | CTTTTGTC others(19): Show |
C | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -26 | c.-23 others(37): Show |
MYOZ1 | ENSG00000177791.12 | transcript | ENST00000359322.5 | protein_coding | 2292 | chr10 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119143874 | CTTGATAG others(19): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 392 | 0.0026 | -26 | c.77- others(41): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69849072 | ATGTTTGC others(19): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 320 | 0.0031 | -26 | c.47- others(41): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69864644 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 320 | 0.0031 | -26 | c.137 others(43): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57676397 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(267): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0157 others(259): Show |
270 | 347 | 0.7781 | -26 | c.130 others(45): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687772 | TATATAAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00642.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0184 others(14): Show |
17 | 320 | 0.0531 | -26 | c.*32 others(37): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2409 | chr15 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48610860 | TAAAAAAA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0151 a0001c0001t0003g0231 |
3 | 21 | 0.1429 | -26 | c.-91 others(35): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 681 | chr16 | TogoVar | |||||||
NAA15_chr4_139296505_139396384 | 139371497 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0294 a0001c0001t0009g0295 |
2 | 33 | 0.0606 | -26 | c.194 others(45): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA19030.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0004g0114 |
3 | 4 | 0.7500 | -26 | c.144 others(45): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112113485 | TGTCCCCC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0303 | 1 | 340 | 0.0029 | -26 | c.-47 others(37): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4703 | chr12 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304284 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -26 | c.-53 others(37): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4880 | chr3 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304292 | AAAAAATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 2 | 370 | 0.0054 | -26 | c.-53 others(37): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4888 | chr3 | TogoVar | |||||||
NAA80_chr3_50291402_50304405 | 50304296 | AATATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 3 | 241 | 0.0124 | -26 | c.-53 others(37): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4892 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175504565 | TTCTCTCT others(19): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02258.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0003c0005others(2): Show | a0001c0001t0002a0001c0001t0033a0003c0004t0001others(5): Show | a0001c0001t0002g0032 a0001c0001t0033g0038 a0003c0004t0001g0044 others(5): Show |
8 | 11 | 0.7273 | -26 | c.165 others(47): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175667215 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0033a0003c0005t0028 | a0001c0001t0033g0038 a0003c0005t0028g0050 |
2 | 63 | 0.0317 | -26 | c.189 others(47): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175730395 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 12 | 0.0833 | -26 | c.189 others(45): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101397066 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0029 | 1 | 92 | 0.0109 | -26 | c.109 others(43): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 2/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101400558 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0016 a0001c0001t0004g0018 a0001c0001t0005g0022 others(4): Show |
7 | 174 | 0.0402 | -26 | c.-39 others(43): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 1/43 | chr13 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106286217 | GTAGTGGA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 334 | 0.0030 | -26 | c.-13 others(37): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 1235 | chr7 | TogoVar | |||||||
NAP1L1_chr12_76031585_76089685 | 76076549 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0223 | 1 | 12 | 0.0833 | -26 | c.-20 others(43): Show |
NAP1L1 | ENSG00000187109.15 | transcript | ENST00000618691.5 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78505269 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 28 | 0.0357 | -26 | c.690 others(45): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 6/13 | chr11 | TogoVar | |||||||
NASP_chr1_45579041_45623893 | 45586272 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp2 NA18963.hp2 NA18970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0096 others(2): Show |
5 | 294 | 0.0170 | -26 | c.59+ others(41): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
NASP_chr1_45579041_45623893 | 45595129 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 54 | 0.0185 | -26 | c.107 others(43): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20106157 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0008a0001c0060 | a0001c0008t0016a0001c0060t0016 | a0001c0008t0016g0087 a0001c0060t0016g0119 |
2 | 104 | 0.0192 | -26 | c.684 others(43): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBL1_chr1_19639311_19663452 | 19647868 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0032 | a0001c0001t0006g0073 a0001c0001t0032g0055 |
2 | 410 | 0.0049 | -26 | c.-20 others(43): Show |
NBL1 | ENSG00000158747.15 | transcript | ENST00000375136.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146076234 | GATAGACA others(19): Show |
G | intron_variant | MODIFIER | NA18944.hp2 NA18952.hp2 NA18954.hp1 others(3): Show |
a0002a0012 | a0002c0001a0012c0012 | a0002c0001t0001a0012c0012t0001a0012c0012t0018 | a0002c0001t0001g0025 a0002c0001t0001g0029 a0002c0001t0001g0033 others(3): Show |
6 | 277 | 0.0217 | -26 | c.962 others(43): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146076238 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02280.hp2 others(3): Show |
a0004a0006a0062others(2): Show | a0004c0028a0006c0019a0062c0046others(2): Show | a0004c0028t0003a0006c0019t0001a0062c0046t0001others(2): Show | a0004c0028t0003g0164 a0004c0028t0003g0178 a0006c0019t0001g0085 others(3): Show |
6 | 122 | 0.0492 | -26 | c.962 others(43): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146076284 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0022 | a0022c0057 | a0022c0057t0023 | a0022c0057t0023g0023 | 1 | 270 | 0.0037 | -26 | c.962 others(43): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146080974 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0219 | 1 | 135 | 0.0074 | -26 | c.889 others(43): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 71/89 | chr1 | TogoVar |