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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO16_chr13_108624611_109213005 | 109022291 | AATATACA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(106): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0005a0001c0008others(54): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(75): Show | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0043 others(106): Show |
109 | 145 | 0.7517 | -25 | c.279 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25789080 | TTCTTCCT others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(98): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0020a0001c0021others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0020t0001others(60): Show | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0061 others(98): Show |
101 | 226 | 0.4469 | -25 | c.237 others(44): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25945832 | CCCTCCCC others(18): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0037 | 1 | 215 | 0.0047 | -25 | c.551 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25990702 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(22): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0038a0001c0076others(21): Show | a0001c0001t0001a0001c0038t0001a0001c0076t0001others(21): Show | a0001c0001t0001g0048 a0001c0038t0001g0173 a0001c0076t0001g0193 others(22): Show |
25 | 226 | 0.1106 | -25 | c.615 others(44): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO19_chr17_36490636_36539868 | 36518508 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0243 a0003c0003t0001g0244 |
2 | 372 | 0.0054 | -25 | c.415 others(42): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | |||||||
MYO1A_chr12_57023517_57055129 | 57052796 | TTGAACCC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 346 | 0.0029 | -25 | c.-29 others(36): Show |
MYO1A | ENSG00000166866.13 | transcript | ENST00000300119.8 | protein_coding | 2668 | chr12 | TogoVar | |||||||
MYO1E_chr15_59127434_59377871 | 59236364 | ATATATAC others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0035a0001c0002t0041 | a0001c0002t0035g0089 a0001c0002t0041g0067 |
2 | 141 | 0.0142 | -25 | c.420 others(40): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8561425 | TTCTCCTC others(18): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 340 | 0.0029 | -25 | c.4-5 others(38): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170405646 | TGACAGTT others(18): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 |
a0002a0006 | a0002c0006a0006c0021 | a0002c0006t0014a0006c0021t0001 | a0002c0006t0014g0006 a0006c0021t0001g0148 |
2 | 172 | 0.0116 | -25 | c.252 others(40): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 21/34 | chr2 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170474743 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0140 | 1 | 23 | 0.0435 | -25 | c.301 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649091 | ATAATGTA others(18): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp1 HG02523.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0002t0003a0001c0005t0003others(4): Show | a0001c0001t0003g0035 a0001c0002t0003g0151 a0001c0005t0003g0097 others(5): Show |
8 | 172 | 0.0465 | -25 | c.373 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | chr2 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(18): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02074.hp2 NA18961.hp2 others(1): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0006 | a0002c0003t0002a0003c0004t0003a0003c0006t0003 | a0002c0003t0002g0164 a0002c0003t0002g0165 a0003c0004t0003g0196 others(1): Show |
4 | 214 | 0.0187 | -25 | c.28- others(42): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75768326 | CATTTTAT others(18): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02738.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0012 | a0001c0001t0010a0001c0001t0017a0001c0001t0033others(10): Show | a0001c0001t0010g0101 a0001c0001t0010g0291 a0001c0001t0010g0292 others(12): Show |
15 | 27 | 0.5556 | -25 | c.-48 others(44): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3085229 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01106.hp2 others(9): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0015a0002c0112others(9): Show | a0001c0001t0001a0002c0015t0001a0002c0112t0001others(9): Show | a0001c0001t0001g0131 a0002c0015t0001g0179 a0002c0112t0001g0153 others(9): Show |
12 | 14 | 0.8571 | -25 | c.425 others(41): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 30/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3134073 | TGGTCTCA others(18): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(181): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0002a0001c0005others(108): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(128): Show | a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0102 others(181): Show |
184 | 328 | 0.5610 | -25 | c.238 others(42): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 16/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2042044 | TGGATGGA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG03098.hp1 others(2): Show |
a0001a0002a0024others(1): Show | a0001c0020a0001c0095a0002c0006others(2): Show | a0001c0020t0001a0001c0095t0001a0002c0006t0001others(2): Show | a0001c0020t0001g0030 a0001c0095t0001g0031 a0002c0006t0001g0027 others(2): Show |
5 | 402 | 0.0124 | -25 | c.-31 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3001 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2057998 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01358.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0103a0002c0016others(7): Show | a0001c0002t0002a0001c0103t0001a0002c0016t0001others(7): Show | a0001c0002t0002g0004 a0001c0103t0001g0346 a0002c0016t0001g0037 others(9): Show |
12 | 30 | 0.4000 | -25 | c.560 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085806 | CCCCCACA others(18): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0059 | a0059c0148 | a0059c0148t0002 | a0059c0148t0002g0036 | 1 | 379 | 0.0026 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085827 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02976.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0039a0002c0015a0002c0034others(2): Show | a0001c0039t0001a0002c0015t0001a0002c0034t0001others(2): Show | a0001c0039t0001g0012 a0002c0015t0001g0142 a0002c0034t0001g0384 others(2): Show |
5 | 388 | 0.0129 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085933 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA18986.hp2 NA19007.hp2 |
a0002a0003 | a0002c0037a0003c0001 | a0002c0037t0001a0003c0001t0001a0003c0001t0002 | a0002c0037t0001g0047 a0003c0001t0001g0332 a0003c0001t0002g0308 |
3 | 381 | 0.0079 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086164 | GTGATCTC others(18): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 |
a0013a0069 | a0013c0178a0069c0064 | a0013c0178t0001a0069c0064t0001 | a0013c0178t0001g0086 a0069c0064t0001g0070 |
2 | 348 | 0.0057 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086199 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03130.hp1 others(1): Show |
a0001a0031a0057others(1): Show | a0001c0023a0031c0134a0057c0179others(1): Show | a0001c0023t0001a0031c0134t0001a0057c0179t0001others(1): Show | a0001c0023t0001g0396 a0031c0134t0001g0048 a0057c0179t0001g0082 others(1): Show |
4 | 393 | 0.0102 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM3_chr1_24051041_24117135 | 24113311 | TCTTTCTT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01943.hp2 HG01975.hp2 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0005a0003c0003a0005c0008others(1): Show | a0001c0005t0002a0003c0003t0001a0005c0008t0002others(1): Show | a0001c0005t0002g0088 a0003c0003t0001g0179 a0005c0008t0002g0042 others(3): Show |
6 | 362 | 0.0166 | -25 | c.-13 others(36): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1177 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64235814 | TGGGTGAC others(18): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0050 | 1 | 222 | 0.0045 | -25 | c.289 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235824 | TGGGCTGG others(18): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0037 | 1 | 222 | 0.0045 | -25 | c.289 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57592139 | TCCCGTTC others(18): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0343 | 1 | 350 | 0.0029 | -25 | c.75+ others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687440 | TAATATGT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG02698.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0148 |
3 | 312 | 0.0096 | -25 | c.*29 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2077 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687471 | AATATGTG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0189 others(1): Show |
4 | 253 | 0.0158 | -25 | c.*29 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2108 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687974 | TAATGTGT others(18): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp1 NA18946.hp2 NA18947.hp2 others(6): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0001 | a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0076 others(4): Show |
9 | 265 | 0.0340 | -25 | c.*34 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2611 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687977 | TGTGTGTA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01361.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0313 a0002c0002t0002g0079 |
2 | 349 | 0.0057 | -25 | c.*34 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2614 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688055 | AATATGTG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 286 | 0.0035 | -25 | c.*35 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2692 | chr15 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48552699 | GAAAAAAA others(18): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 62 | 0.0161 | -25 | c.202 others(42): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02572.hp2 HG03453.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0211 a0003c0003t0001g0203 a0003c0003t0001g0205 others(3): Show |
6 | 7 | 0.8571 | -25 | c.144 others(44): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
NAAA_chr4_75908660_75946013 | 75942304 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0189 | 1 | 115 | 0.0087 | -25 | c.-13 others(36): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 1292 | chr4 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90154884 | TATATGTA others(18): Show |
T | intron_variant | MODIFIER | NA18977.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 a0001c0001t0003g0090 |
2 | 360 | 0.0056 | -25 | c.796 others(42): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174885876 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 |
a0003a0005 | a0003c0005a0005c0006 | a0003c0005t0005a0005c0006t0015 | a0003c0005t0005g0009 a0005c0006t0015g0013 |
2 | 4 | 0.5000 | -25 | c.43+ others(42): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NABP2_chr12_56219342_56234854 | 56233264 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 57 | 0.0175 | -25 | c.*40 others(36): Show |
NABP2 | ENSG00000139579.13 | transcript | ENST00000267023.9 | protein_coding | 3411 | chr12 | TogoVar | |||||||
NACA_chr12_56707427_56730299 | 56713181 | AATCTTCG others(18): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19091.hp2 | a0036 | a0036c0030 | a0036c0030t0001 | a0036c0030t0001g0071 | 1 | 364 | 0.0027 | -25 | c.597 others(37): Show |
p.Ile others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 7/9 | 6018/6387 | 5971/6237 | 1991/2078 | chr12 | TogoVar | |||
NACC2_chr9_136001537_136100289 | 136099637 | CGGGTGGG others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0297 | 1 | 346 | 0.0029 | -25 | c.-45 others(36): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 4349 | chr9 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081034 | ATTTATTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0005 a0001c0001t0002g0033 a0001c0001t0007g0018 others(6): Show |
13 | 113 | 0.1150 | -25 | c.*25 others(36): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1227 | chr2 | TogoVar | |||||||
NAPA_chr19_47482637_47520063 | 47509329 | TAAAATAA others(18): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 336 | 0.0030 | -25 | c.98+ others(40): Show |
NAPA | ENSG00000105402.8 | transcript | ENST00000263354.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NAPG_chr18_10521027_10557764 | 10525271 | GGTCAAGG others(18): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0118 | 1 | 422 | 0.0024 | -25 | c.-83 others(34): Show |
NAPG | ENSG00000134265.13 | transcript | ENST00000322897.11 | protein_coding | 755 | chr18 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201643261 | CCTTCCCT others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0010 | a0001c0010t0033 | a0001c0010t0033g0085 | 1 | 208 | 0.0048 | -25 | c.827 others(42): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19900283 | AGTTGTAT others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0024a0001c0028a0001c0029others(31): Show | a0001c0024t0001a0001c0028t0030a0001c0029t0006others(32): Show | a0001c0024t0001g0047 a0001c0028t0030g0073 a0001c0029t0006g0104 others(35): Show |
38 | 166 | 0.2289 | -25 | c.931 others(42): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19945153 | CTCCCTTC others(18): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001a0004a0015 | a0001c0053a0001c0054a0004c0088others(1): Show | a0001c0053t0010a0001c0054t0005a0004c0088t0002others(1): Show | a0001c0053t0010g0163 a0001c0054t0005g0083 a0004c0088t0002g0069 others(1): Show |
4 | 101 | 0.0396 | -25 | c.214 others(44): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203039211 | TTTCCTTT others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0045 | 1 | 287 | 0.0035 | -25 | c.52- others(40): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203039216 | TTTCCCTT others(18): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0272 | 1 | 35 | 0.0286 | -25 | c.52- others(40): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35236406 | TTTTTGTT others(18): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0009 | 1 | 6 | 0.1667 | -25 | c.577 others(44): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 34/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148132723 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0219 | 1 | 6 | 0.1667 | -25 | c.-36 others(42): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
NCAM1_chr11_112956420_113283436 | 113063719 | CTAAGAAC others(18): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0060 | 1 | 242 | 0.0041 | -25 | c.52+ others(44): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |