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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP4_chr4_20723606_21953772 | 21757171 | GAAGGAAG others(85): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02300.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0002g0036 others(6): Show |
9 | 75 | 0.1200 | -92 | c.61+ others(111): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | GATATATA others(85): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0015 others(16): Show |
19 | 120 | 0.1583 | -92 | c.-67 others(111): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759814 | ATATATAT others(85): Show |
A | intron_variant | MODIFIER | NA18998.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 a0001c0002t0001g0152 |
2 | 225 | 0.0089 | -92 | c.-67 others(111): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759968 | ATATATAT others(85): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 a0001c0001t0003g0105 a0001c0001t0003g0107 others(2): Show |
5 | 231 | 0.0216 | -92 | c.-67 others(111): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760158 | ATATATAT others(85): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0106 a0001c0001t0002g0022 a0001c0001t0002g0065 others(11): Show |
14 | 232 | 0.0603 | -92 | c.-67 others(111): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722432 | TTTATAAA others(85): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0002a0009 | a0002c0005a0002c0006a0009c0028 | a0002c0005t0006a0002c0006t0001a0009c0028t0004 | a0002c0005t0006g0018 a0002c0006t0001g0050 a0009c0028t0004g0051 |
6 | 440 | 0.0136 | -92 | c.135 others(111): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167999984 | CCCCACTC others(85): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0010 | a0001c0010t0023 | a0001c0010t0023g0353 | 1 | 374 | 0.0027 | -92 | c.-37 others(109): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373553 | TATACGTA others(85): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 257 | 0.0039 | -92 | c.167 others(109): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | chrX | TogoVar | |||||||
KIF4A_chrX_70285104_70425886 | 70373556 | ACGTATAT others(85): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0099 others(37): Show |
40 | 250 | 0.1600 | -92 | c.167 others(109): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | chrX | TogoVar | |||||||
KIF4A_chrX_70285104_70425886 | 70373674 | ATATACGT others(85): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0241 | 1 | 257 | 0.0039 | -92 | c.167 others(109): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373685 | TATATATA others(85): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 255 | 0.0039 | -92 | c.167 others(109): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LAMB1_chr7_107918799_108008161 | 107976856 | TCTCCTTC others(85): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00735.hp2 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0009a0001c0018a0001c0032others(10): Show | a0001c0009t0001a0001c0018t0001a0001c0018t0002others(11): Show | a0001c0009t0001g0018 a0001c0009t0001g0194 a0001c0009t0001g0270 others(27): Show |
30 | 360 | 0.0833 | -92 | c.100 others(110): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007579 | ATATATAT others(85): Show |
A | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0010 | a0001c0010t0015 | a0001c0010t0015g0006 | 1 | 310 | 0.0032 | -92 | c.343 others(111): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LEKR1_chr3_156821353_157051129 | 156899467 | TGTATATA others(85): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 242 | 0.0041 | -92 | c.264 others(111): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | chr3 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28584921 | TGACTGCA others(85): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(58): Show |
61 | 62 | 0.9839 | -92 | c.-31 others(113): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 902572 | TGGTGACC others(85): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0060 | a0001c0060t0002 | a0001c0060t0002g0128 | 1 | 292 | 0.0034 | -92 | c.663 others(109): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 917292 | ACTGCGGG others(85): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(107): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(41): Show | a0001c0001t0001g0024 a0001c0001t0001g0196 a0001c0002t0001g0021 others(107): Show |
110 | 291 | 0.3780 | -92 | c.515 others(109): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198040495 | TATGGCAT others(85): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG02647.hp2 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0017 a0002c0002t0018g0018 a0002c0002t0018g0019 |
3 | 256 | 0.0117 | -92 | c.*18 others(103): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 17/17 | 1837 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 25030903 | ATAATATA others(85): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0003g0081 others(19): Show |
22 | 116 | 0.1897 | -92 | c.766 others(111): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2210405 | TTCTAGGA others(85): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 others(63): Show |
66 | 147 | 0.4490 | -92 | c.986 others(109): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19171983 | TATAATAT others(85): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01071.hp1 others(22): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0025a0002c0005others(15): Show | a0001c0003t0001a0001c0025t0001a0002c0005t0001others(16): Show | a0001c0003t0001g0026 a0001c0003t0001g0035 a0001c0025t0001g0127 others(22): Show |
25 | 150 | 0.1667 | -92 | c.183 others(111): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPK11_chr22_50258713_50275380 | 50265879 | ACCCAGCC others(85): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 405 | 0.0025 | -92 | c.762 others(107): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
MAPK12_chr22_50247901_50266683 | 50265879 | ACCCAGCC others(85): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 421 | 0.0024 | -92 | c.-44 others(103): Show |
MAPK12 | ENSG00000188130.14 | transcript | ENST00000215659.13 | protein_coding | 4197 | chr22 | TogoVar | |||||||
MAPK9_chr5_180228143_180297083 | 180296763 | ACACACAC others(85): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 370 | 0.0027 | -92 | c.-50 others(103): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4681 | chr5 | TogoVar | |||||||
MAPK9_chr5_180228143_180297083 | 180296863 | ACACACAC others(85): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01255.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0251 a0001c0001t0002g0087 a0001c0001t0002g0105 others(30): Show |
37 | 370 | 0.1000 | -92 | c.-51 others(103): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4781 | chr5 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148345430 | TATACATA others(85): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0006g0013 |
3 | 185 | 0.0162 | -92 | c.-55 others(111): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77018872 | CCATCCAT others(85): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0257 | 1 | 394 | 0.0025 | -92 | c.140 others(109): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6567115 | CGGTGCGG others(85): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(29): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0033a0002c0002others(15): Show | a0001c0001t0005a0001c0001t0012a0001c0033t0004others(22): Show | a0001c0001t0005g0024 a0001c0001t0012g0015 a0001c0033t0004g0037 others(29): Show |
32 | 260 | 0.1231 | -92 | c.221 others(113): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243305 | ACATACGT others(85): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG03209.hp2 HG03486.hp2 |
a0001a0005 | a0001c0001a0001c0002a0005c0014 | a0001c0001t0001a0001c0002t0001a0005c0014t0045 | a0001c0001t0001g0176 a0001c0002t0001g0177 a0005c0014t0045g0175 |
3 | 274 | 0.0109 | -92 | c.-66 others(111): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83243523 | TATATCGA others(85): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 others(6): Show |
9 | 269 | 0.0335 | -92 | c.815 others(109): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000772 | ACTCTATG others(85): Show |
A | downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 417 | 0.0024 | -92 | c.*25 others(103): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 967 | chr3 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544526 | GGGGACAG others(85): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 282 | 0.0035 | -92 | c.153 others(111): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237556875 | TCTCTCCC others(85): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03041.hp1 |
a0001a0031 | a0001c0015a0031c0039 | a0001c0015t0008a0031c0039t0008 | a0001c0015t0008g0144 a0031c0039t0008g0108 |
2 | 252 | 0.0079 | -92 | c.*32 others(103): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 1554 | chr2 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495772 | GGAGATGG others(85): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 247 | 0.0040 | -92 | c.633 others(109): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692356 | ATAGATAA others(85): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0018 | a0001c0002a0002c0037a0018c0018 | a0001c0002t0001a0001c0002t0016a0002c0037t0005others(1): Show | a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 others(52): Show |
55 | 326 | 0.1687 | -92 | c.134 others(113): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80692380 | ATAGATAA others(85): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
a0010a0011a0013others(1): Show | a0010c0011a0011c0016a0011c0022others(2): Show | a0010c0011t0005a0011c0016t0005a0011c0022t0005others(2): Show | a0010c0011t0005g0014 a0010c0011t0005g0015 a0010c0011t0005g0029 others(5): Show |
8 | 349 | 0.0229 | -92 | c.134 others(113): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSX1_chr4_4854665_4868936 | 4861522 | GGTGTGAA others(85): Show |
G | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0045 | 1 | 438 | 0.0023 | -92 | c.469 others(109): Show |
MSX1 | ENSG00000163132.8 | transcript | ENST00000382723.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29375517 | ATATATAT others(85): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0009 | a0009c0014 | a0009c0014t0003 | a0009c0014t0003g0001 | 1 | 90 | 0.0111 | -92 | c.311 others(113): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663660 | CAGCCTCC others(85): Show |
C | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 407 | 0.0025 | -92 | c.287 others(109): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663691 | GTCCTCAT others(85): Show |
G | intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 391 | 0.0026 | -92 | c.287 others(109): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672284 | CATATATA others(85): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02723.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0084 others(2): Show |
7 | 375 | 0.0187 | -92 | c.-20 others(103): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1943 | chr19 | TogoVar | |||||||
MYL10_chr7_101608330_101634296 | 101609703 | CCCTCCCT others(85): Show |
C | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 389 | 0.0026 | -92 | c.*36 others(103): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3626 | chr7 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32715964 | CAAGCCAC others(85): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 242 | 0.0041 | -92 | c.191 others(111): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 15/21 | chr17 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688313 | ATGTGTGT others(85): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02056.hp2 NA18956.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0002c0002t0002a0002c0002t0005 | a0001c0003t0006g0115 a0002c0002t0002g0051 a0002c0002t0002g0096 others(3): Show |
6 | 350 | 0.0171 | -92 | c.*38 others(103): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2950 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688556 | CTATATAT others(85): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0162 a0002c0002t0002g0012 a0002c0002t0002g0017 others(7): Show |
10 | 271 | 0.0369 | -92 | c.*40 others(103): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3193 | chr15 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175218445 | GTTTGTTT others(85): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG03130.hp2 |
a0004a0008a0015 | a0004c0002a0008c0018a0015c0021 | a0004c0002t0002a0008c0018t0001a0015c0021t0003 | a0004c0002t0002g0048 a0008c0018t0001g0043 a0015c0021t0003g0042 |
3 | 64 | 0.0469 | -92 | c.546 others(111): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
NEK1_chr4_169387809_169617583 | 169425106 | GGGAGGAT others(85): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0015t0002 | a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0015t0002g0171 |
3 | 258 | 0.0116 | -92 | c.297 others(109): Show |
NEK1 | ENSG00000137601.18 | transcript | ENST00000507142.6 | protein_coding | 30/35 | chr4 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 72085754 | ACCACATA others(85): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0160 a0001c0001t0017g0161 |
2 | 187 | 0.0107 | -92 | c.281 others(111): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937320 | ATCCCCCG others(85): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03041.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004 | a0001c0001t0001g0048 a0003c0006t0004g0030 a0003c0006t0004g0031 |
6 | 135 | 0.0444 | -92 | c.166 others(107): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937419 | GGGGTCCG others(85): Show |
G | intron_variant | MODIFIER | HG02559.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164 a0001c0001t0002g0071 |
2 | 389 | 0.0051 | -92 | c.166 others(107): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |