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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20490035 | C | CAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01928.hp2 others(9): Show |
a0003a0004a0007others(2): Show | a0003c0003a0004c0004a0007c0007others(2): Show | a0003c0003t0005a0004c0004t0002a0004c0004t0013others(3): Show | a0003c0003t0005g0362 a0004c0004t0002g0304 a0004c0004t0002g0308 others(8): Show |
12 | 282 | 0.0426 | 3 | c.*33 others(14): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2367 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566656 | A | ATAC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(87): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0004a0003c0033others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(65): Show |
90 | 386 | 0.2332 | 3 | c.-8- others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566676 | C | CTAT | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02738.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0007others(3): Show | a0001c0001t0001a0002c0003t0005a0003c0007t0007others(3): Show | a0001c0001t0001g0163 a0002c0003t0005g0061 a0003c0007t0007g0248 others(3): Show |
6 | 140 | 0.0429 | 3 | c.-8- others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20767516 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG02165.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0039 others(3): Show |
7 | 244 | 0.0287 | 3 | c.-51 others(20): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM4_chr12_7299072_7333719 | 7301519 | C | CTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(122): Show |
346 | 428 | 0.8084 | 3 | c.-28 others(14): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2552 | chr12 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20406525 | C | CTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(17): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0004others(7): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0162 others(17): Show |
20 | 278 | 0.0719 | 3 | c.-31 others(14): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3008 | chr16 | TogoVar | |||||||
ACSM6_chr10_95189238_95233929 | 95200615 | G | GAGA | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01069.hp2 others(9): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0001a0008c0010t0001 | a0003c0003t0001g0037 a0003c0003t0001g0147 a0003c0003t0001g0166 others(8): Show |
12 | 214 | 0.0561 | 3 | c.193 others(20): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95208933 | T | TAAA | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01069.hp2 others(24): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0126 a0001c0001t0001g0137 others(16): Show |
27 | 37 | 0.7297 | 3 | c.611 others(20): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25036985 | A | AAGG | intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 NA21309.hp2 |
a0001a0013 | a0001c0007a0013c0024 | a0001c0007t0006a0013c0024t0010 | a0001c0007t0006g0125 a0001c0007t0006g0194 a0013c0024t0010g0165 |
3 | 241 | 0.0124 | 3 | c.432 others(20): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34873898 | G | GCAT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0001a0003c0005t0001 | a0002c0004t0001g0148 a0003c0005t0001g0001 a0003c0005t0001g0019 others(4): Show |
9 | 310 | 0.0290 | 3 | c.-27 others(14): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2713 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34888067 | C | CAAA | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0160 a0001c0001t0001g0200 others(13): Show |
17 | 114 | 0.1491 | 3 | c.374 others(20): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81083358 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 others(51): Show |
54 | 274 | 0.1971 | 3 | c.311 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81100216 | G | GTTT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG02027.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0004g0034 others(12): Show |
15 | 93 | 0.1613 | 3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81108247 | C | CTAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(143): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(143): Show |
146 | 287 | 0.5087 | 3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81108264 | A | AATT | intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0002a0001c0005t0007a0002c0003t0005 | a0001c0002t0002g0173 a0001c0005t0007g0150 a0002c0003t0005g0152 others(9): Show |
12 | 227 | 0.0529 | 3 | c.312 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81121915 | A | ATAT | intron_variant | MODIFIER | HG01168.hp1 HG01257.hp2 HG01361.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0064 others(18): Show |
21 | 174 | 0.1207 | 3 | c.456 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81139619 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0035 others(135): Show |
138 | 287 | 0.4808 | 3 | c.780 others(18): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81139635 | A | AATT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00735.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(36): Show |
39 | 286 | 0.1364 | 3 | c.780 others(18): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81145067 | A | ATTT | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0035 a0001c0001t0003g0031 a0001c0001t0004g0090 others(4): Show |
7 | 83 | 0.0843 | 3 | c.921 others(20): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81161821 | G | GTCA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(82): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0055 others(82): Show |
85 | 288 | 0.2951 | 3 | c.109 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81181747 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01074.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0001g0239 others(53): Show |
56 | 131 | 0.4275 | 3 | c.125 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213949 | C | CTCT | intron_variant | MODIFIER | HG02055.hp1 NA19002.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0065 a0001c0001t0001g0160 a0001c0001t0008g0086 |
3 | 281 | 0.0107 | 3 | c.135 others(22): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81265291 | C | CAAA | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02027.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(1): Show | a0001c0002t0002a0001c0005t0007a0001c0011t0006others(1): Show | a0001c0002t0002g0024 a0001c0002t0002g0117 a0001c0002t0002g0138 others(10): Show |
13 | 128 | 0.1016 | 3 | c.*10 others(16): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4082 | chr12 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229437210 | T | TCTC | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0002t0001g0009 others(2): Show |
26 | 448 | 0.0580 | 3 | c.-32 others(14): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3117 | chr1 | TogoVar | |||||||
ACTA1_chr1_229426245_229439094 | 229437521 | C | CAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01516.hp2 HG02040.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0021 others(2): Show |
23 | 413 | 0.0557 | 3 | c.-35 others(14): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3428 | chr1 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88932032 | G | GATT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show |
96 | 253 | 0.3794 | 3 | c.*31 others(14): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3041 | chr10 | TogoVar | |||||||
ACTA2_chr10_88930074_88957773 | 88946275 | C | CTTT | intron_variant | MODIFIER | HG01891.hp1 HG02027.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0032 others(4): Show |
14 | 132 | 0.1061 | 3 | c.258 others(18): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
ACTB_chr7_5522148_5535601 | 5534408 | C | CAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0002g0002 others(9): Show |
41 | 222 | 0.1847 | 3 | c.-38 others(14): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 3808 | chr7 | TogoVar | |||||||
ACTC1_chr15_34785230_34800549 | 34800230 | A | ATTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(224): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(72): Show |
227 | 262 | 0.8664 | 3 | c.-47 others(14): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 4682 | chr15 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81507390 | G | GTTT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0022a0001c0004t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0022g0038 a0001c0004t0003g0004 others(2): Show |
7 | 265 | 0.0264 | 3 | c.*32 others(14): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 2580 | chr17 | TogoVar | |||||||
ACTG1_chr17_81504971_81517799 | 81509295 | G | GTTC | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0005t0024a0001c0006t0004 | a0001c0005t0005g0009 a0001c0005t0005g0056 a0001c0005t0024g0027 others(2): Show |
15 | 368 | 0.0408 | 3 | c.*13 others(14): Show |
ACTG1 | ENSG00000184009.13 | transcript | ENST00000573283.7 | protein_coding | 675 | chr17 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73889693 | C | CCGG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0065 others(50): Show |
56 | 414 | 0.1353 | 3 | c.-33 others(14): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3314 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73910365 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0086 others(49): Show |
55 | 201 | 0.2736 | 3 | c.451 others(20): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73913170 | C | CAAA | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0003t0001g0392 a0001c0003t0002g0262 a0001c0003t0004g0050 others(5): Show |
8 | 188 | 0.0426 | 3 | c.452 others(18): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73920533 | T | TTCC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0238 a0001c0001t0001g0351 a0001c0001t0003g0067 others(29): Show |
32 | 351 | 0.0912 | 3 | c.*95 others(12): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 669 | chr2 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73924580 | A | ATTT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0351 a0001c0001t0003g0255 a0001c0001t0003g0260 others(7): Show |
11 | 171 | 0.0643 | 3 | c.*50 others(14): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 4716 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179559701 | C | CAAA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01167.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0030 others(12): Show |
20 | 129 | 0.1550 | 3 | c.-33 others(14): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 3224 | chr3 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | C | CAAA | intron_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG02129.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(6): Show |
10 | 47 | 0.2128 | 3 | c.369 others(20): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654431 | C | CAAT | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 |
3 | 357 | 0.0084 | 3 | c.369 others(18): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | C | CATA | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01256.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0065 others(19): Show |
23 | 101 | 0.2277 | 3 | c.369 others(18): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
ACTL8_chr1_17750333_17832063 | 17776969 | A | ATTT | intron_variant | MODIFIER | HG02004.hp1 HG02027.hp1 HG02083.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0172 a0001c0001t0001g0285 a0001c0001t0001g0292 others(6): Show |
9 | 56 | 0.1607 | 3 | c.-25 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17812596 | A | ATTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0347 a0001c0005t0001g0041 a0001c0005t0001g0104 others(12): Show |
15 | 174 | 0.0862 | 3 | c.-24 others(22): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8702096 | C | CAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01517.hp1 HG01517.hp2 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
12 | 42 | 0.2857 | 3 | c.-33 others(14): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 3302 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40754100 | G | GTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00741.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0004g0004 others(15): Show |
27 | 217 | 0.1244 | 3 | c.-43 others(14): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3624 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68870477 | C | CTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(54): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0166 others(54): Show |
57 | 124 | 0.4597 | 3 | c.*43 others(14): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3650 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68899033 | A | ACAC | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(31): Show |
34 | 282 | 0.1206 | 3 | c.762 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68918173 | A | ACAG | intron_variant | MODIFIER | HG01255.hp2 HG01943.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0213 others(9): Show |
12 | 282 | 0.0426 | 3 | c.340 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932539 | T | TTTA | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00639.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(4): Show | a0001c0001t0001g0218 a0001c0001t0001g0254 a0001c0001t0002g0028 others(18): Show |
21 | 196 | 0.1071 | 3 | c.106 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68977800 | T | TCCC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(96): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0013 others(94): Show |
99 | 189 | 0.5238 | 3 | c.105 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236716835 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01081.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0111 others(52): Show |
55 | 60 | 0.9167 | 3 | c.127 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |