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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPPED2_chr11_30405224_30591353 | 30589830 | AGCAGGAT others(53): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 262 | 0.0038 | -60 | c.-39 others(71): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 3478 | chr11 | TogoVar | |||||||
MRPL45_chr17_38292168_38328211 | 38313309 | AAAATATA others(53): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 287 | 0.0035 | -60 | c.462 others(77): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPS14_chr1_175007958_175028425 | 175027022 | TTATTATA others(53): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 2 | 398 | 0.0050 | -60 | c.-36 others(71): Show |
MRPS14 | ENSG00000120333.4 | transcript | ENST00000476371.1 | protein_coding | 3598 | chr1 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418975 | ATATATAT others(53): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01515.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0073 others(5): Show |
9 | 428 | 0.0210 | -60 | c.*19 others(71): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1220 | chr11 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418992 | TATATATA others(53): Show |
T | downstream_gene_variant | MODIFIER | HG02735.hp1 NA18950.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 428 | 0.0070 | -60 | c.*19 others(71): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1237 | chr11 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418994 | TATATATA others(53): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp2 NA19010.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0069 |
4 | 428 | 0.0094 | -60 | c.*19 others(71): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1239 | chr11 | TogoVar | |||||||
MS4A3_chr11_60051665_60076115 | 60069096 | ATAGTAGA others(53): Show |
A | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 408 | 0.0025 | -60 | c.514 others(75): Show |
MS4A3 | ENSG00000149516.15 | transcript | ENST00000278865.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSANTD5_chr5_178689572_178702761 | 178699815 | ATTCTAAT others(53): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp2 HG03669.hp1 NA19043.hp2 |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0003 | a0001c0001t0001a0002c0005t0001a0003c0003t0001 | a0001c0001t0001g0001 a0002c0005t0001g0006 a0003c0003t0001g0009 |
3 | 430 | 0.0070 | -60 | c.-22 others(71): Show |
MSANTD5 | ENSG00000285891.2 | transcript | ENST00000648368.2 | protein_coding | 2055 | chr5 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769162 | TGGCCCCG others(53): Show |
T | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0178 | 1 | 388 | 0.0026 | -60 | c.*43 others(69): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 301 | chr16 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16102925 | GTATACAT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0245 | 1 | 330 | 0.0030 | -60 | c.*71 others(71): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 4955 | chr8 | TogoVar | |||||||
MT4_chr16_56560073_56573957 | 56568196 | GAAGAGAG others(53): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02071.hp1 HG02280.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(9): Show |
16 | 428 | 0.0374 | -60 | c.97+ others(73): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568215 | GAAAGAAA others(53): Show |
G | intron_variant | MODIFIER | HG03041.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0234 |
2 | 428 | 0.0047 | -60 | c.97+ others(73): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTMR3_chr22_29878174_30035868 | 29906246 | GTCTGTCT others(53): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0291 a0001c0001t0047g0292 |
2 | 334 | 0.0060 | -60 | c.-13 others(81): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389791 | GTATATAC others(53): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 others(32): Show |
35 | 92 | 0.3804 | -60 | c.311 others(81): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC13_chr3_124900442_124939751 | 124930817 | TCCCAAAG others(53): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0377 | 1 | 452 | 0.0022 | -60 | c.53- others(75): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775682 | ATACCTTC others(53): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0173 | a0173c0048 | a0173c0048t0001 | a0173c0048t0001g0146 | 1 | 249 | 0.0040 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775799 | CCCATACC others(53): Show |
C | intron_variant | MODIFIER | HG02717.hp2 NA19065.hp1 |
a0055a0154 | a0055c0143a0154c0092 | a0055c0143t0001a0154c0092t0016 | a0055c0143t0001g0007 a0154c0092t0016g0247 |
2 | 249 | 0.0080 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775964 | CCCATACC others(53): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0101 | 1 | 249 | 0.0040 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775994 | GTCATACC others(53): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG02451.hp2 others(6): Show |
a0066a0068a0069others(6): Show | a0066c0177a0068c0171a0069c0172others(6): Show | a0066c0177t0004a0068c0171t0005a0069c0172t0005others(6): Show | a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 others(6): Show |
9 | 249 | 0.0361 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776012 | ATACCTTC others(53): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 249 | 0.0040 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776175 | TCATACCT others(53): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02895.hp2 NA20300.hp1 |
a0074a0077a0126 | a0074c0167a0077c0169a0126c0081 | a0074c0167t0001a0077c0169t0013a0126c0081t0001 | a0074c0167t0001g0067 a0077c0169t0013g0184 a0126c0081t0001g0202 |
3 | 249 | 0.0121 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776429 | CCCATACC others(53): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG03831.hp2 NA18954.hp2 others(1): Show |
a0001a0009a0130others(1): Show | a0001c0001a0009c0006a0130c0125others(1): Show | a0001c0001t0002a0009c0006t0001a0130c0125t0001others(1): Show | a0001c0001t0002g0028 a0009c0006t0001g0133 a0130c0125t0001g0065 others(1): Show |
4 | 249 | 0.0161 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776655 | CCATACCT others(53): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0066 | a0066c0177 | a0066c0177t0004 | a0066c0177t0004g0226 | 1 | 249 | 0.0040 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776775 | CCATACCT others(53): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 NA18955.hp2 others(2): Show |
a0099a0108a0129others(2): Show | a0099c0119a0108c0117a0129c0038others(2): Show | a0099c0119t0001a0108c0117t0001a0129c0038t0001others(2): Show | a0099c0119t0001g0031 a0108c0117t0001g0165 a0129c0038t0001g0148 others(2): Show |
5 | 249 | 0.0201 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777105 | TCATACCT others(53): Show |
T | intron_variant | MODIFIER | NA18977.hp1 NA19003.hp2 NA19066.hp2 |
a0001a0013 | a0001c0001a0001c0158a0013c0021 | a0001c0001t0002a0001c0158t0006a0013c0021t0002 | a0001c0001t0002g0048 a0001c0158t0006g0033 a0013c0021t0002g0037 |
3 | 249 | 0.0121 | -60 | c.129 others(81): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777287 | ATACCTTC others(53): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02257.hp1 HG02273.hp1 others(1): Show |
a0093a0113a0135others(1): Show | a0093c0179a0113c0047a0135c0103others(1): Show | a0093c0179t0012a0113c0047t0001a0135c0103t0001others(1): Show | a0093c0179t0012g0236 a0113c0047t0001g0126 a0135c0103t0001g0111 others(1): Show |
4 | 249 | 0.0161 | -60 | c.129 others(80): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777480 | CCTTACCT others(53): Show |
C | intron_variant | MODIFIER | NA19066.hp2 | a0013 | a0013c0021 | a0013c0021t0002 | a0013c0021t0002g0037 | 1 | 249 | 0.0040 | -60 | c.129 others(79): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1179601 | CAGCAGAG others(53): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01099.hp2 others(8): Show |
a0009a0010a0016others(3): Show | a0009c0020a0010c0019a0016c0029others(3): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(3): Show | a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(4): Show |
11 | 292 | 0.0377 | -60 | c.348 others(77): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 26/48 | chr11 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1035508 | GGCTCAGA others(53): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0022 | a0022c0019 | a0022c0019t0002 | a0022c0019t0002g0277 | 1 | 406 | 0.0025 | -60 | c.52+ others(75): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701665 | ATTTTATT others(53): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0162 | 1 | 326 | 0.0031 | -60 | c.628 others(77): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYBBP1A_chr17_4533904_4560384 | 4544154 | AGCACAGC others(53): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01167.hp2 others(16): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0026a0004c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0026t0001others(7): Show | a0001c0001t0001g0099 a0001c0001t0001g0178 a0001c0001t0002g0170 others(10): Show |
19 | 474 | 0.0401 | -60 | c.263 others(77): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672237 | ATATATGA others(53): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 410 | 0.0024 | -60 | c.-19 others(71): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1896 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672366 | TATATATA others(53): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0149 others(18): Show |
21 | 410 | 0.0512 | -60 | c.-20 others(71): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 2025 | chr19 | TogoVar | |||||||
MYL5_chr4_669542_687028 | 681595 | CCGCCGCC others(53): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(70): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0059 others(21): Show |
73 | 412 | 0.1772 | -60 | c.421 others(75): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32577200 | GACATCGC others(53): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0022 | a0001c0001t0004g0178 a0001c0001t0006g0188 a0001c0001t0022g0180 |
3 | 244 | 0.0123 | -60 | c.286 others(81): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77174389 | GTCCTGCG others(53): Show |
G | intron_variant | MODIFIER | NA18959.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0293 | 1 | 356 | 0.0028 | -60 | c.193 others(77): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 16/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3202366 | CCAAGGAA others(53): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp2 others(16): Show |
a0003a0004a0010others(10): Show | a0003c0035a0004c0111a0004c0184others(13): Show | a0003c0035t0001a0004c0111t0003a0004c0184t0001others(14): Show | a0003c0035t0001g0189 a0004c0111t0003g0176 a0004c0184t0001g0032 others(16): Show |
19 | 330 | 0.0576 | -60 | c.291 others(77): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 2/37 | chr18 | TogoVar | |||||||
MYRFL_chr12_69820227_69964097 | 69891577 | CTTTCTTT others(53): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG03710.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0003g0264 a0001c0001t0003g0286 a0001c0003t0001g0125 others(7): Show |
10 | 322 | 0.0311 | -60 | c.903 others(75): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1869150 | AATCCTCT others(53): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0088 | 1 | 104 | 0.0096 | -60 | c.271 others(81): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688524 | ACCTATAT others(53): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0127 | 1 | 352 | 0.0028 | -60 | c.*40 others(71): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3161 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688527 | TATATACT others(53): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp1 HG02698.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0149 a0001c0003t0003g0150 |
2 | 352 | 0.0057 | -60 | c.*40 others(71): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3164 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688557 | TATATATA others(53): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 352 | 0.0028 | -60 | c.*40 others(71): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3194 | chr15 | TogoVar | |||||||
NAV3_chr12_77825894_78218010 | 78142677 | ATATGTGT others(53): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG02723.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0020others(2): Show | a0001c0001t0014a0001c0001t0036a0001c0001t0051others(5): Show | a0001c0001t0014g0162 a0001c0001t0036g0014 a0001c0001t0051g0160 others(5): Show |
8 | 186 | 0.0430 | -60 | c.468 others(79): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 20/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35673154 | CTAGCAAG others(53): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02896.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0021others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0058 a0001c0001t0005g0002 a0001c0001t0005g0063 others(6): Show |
9 | 122 | 0.0738 | -60 | c.*21 others(71): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 419 | chr13 | TogoVar | |||||||
NCAN_chr19_19206958_19257233 | 19207460 | CGTTGTAC others(53): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 318 | 0.0031 | -60 | c.-46 others(71): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 4497 | chr19 | TogoVar | |||||||
NCAPD3_chr11_134145113_134228967 | 134167337 | CGCACACT others(53): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02451.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0026a0001c0027t0026 | a0001c0001t0026g0362 a0001c0027t0026g0363 |
2 | 370 | 0.0054 | -60 | c.357 others(77): Show |
NCAPD3 | ENSG00000151503.14 | transcript | ENST00000534548.7 | protein_coding | 27/34 | chr11 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648597 | GACAACCA others(53): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0202 a0001c0003t0002g0208 a0001c0003t0002g0209 |
3 | 378 | 0.0079 | -60 | c.307 others(79): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158648617 | GACAACCA others(53): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(2): Show |
5 | 378 | 0.0132 | -60 | c.307 others(79): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667780 | TCCCTTAC others(53): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 378 | 0.0027 | -60 | c.148 others(79): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667993 | CTACTGGG others(53): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 378 | 0.0027 | -60 | c.148 others(79): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar |