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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALS2_chr2_201695267_201785933 | 201758760 | A | ATGTGTG | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0023 a0001c0001t0006g0330 a0001c0001t0006g0331 |
3 | 28 | 0.1071 | 6 | c.111 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85304645 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(16): Show |
59 | 317 | 0.1861 | 6 | c.*31 others(17): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2862 | chr12 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44257293 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0005a0001c0002t0005a0001c0002t0015others(10): Show | a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0002t0005g0203 others(33): Show |
36 | 262 | 0.1374 | 6 | c.*75 others(17): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 3146 | chr11 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(128): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0001g0095 a0001c0001t0001g0178 a0001c0001t0005g0141 others(43): Show |
131 | 192 | 0.6823 | 6 | c.740 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTG | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01358.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 3 | 64 | 0.0469 | 6 | c.740 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 34003242 | C | CCGAAAT | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02896.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0007a0008c0008t0011a0008c0008t0032 | a0008c0008t0007g0041 a0008c0008t0007g0042 a0008c0008t0011g0114 others(1): Show |
6 | 436 | 0.0138 | 6 | c.552 others(23): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588670 | A | ACTCCGT | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0138 others(2): Show |
7 | 475 | 0.0147 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3585 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATA | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02723.hp2 NA18906.hp1 |
a0001a0004a0011 | a0001c0001a0004c0005a0011c0014 | a0001c0001t0002a0004c0005t0004a0011c0014t0005 | a0001c0001t0002g0125 a0004c0005t0004g0160 a0011c0014t0005g0130 |
3 | 130 | 0.0231 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TATATAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0025 | a0001c0001t0002a0002c0002t0004a0002c0025t0004 | a0001c0001t0002g0126 a0002c0002t0004g0136 a0002c0025t0004g0161 |
3 | 248 | 0.0121 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACACA | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01884.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0068 a0001c0001t0001g0073 others(12): Show |
17 | 271 | 0.0627 | 6 | c.-18 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0139 others(23): Show |
34 | 37 | 0.9189 | 6 | c.603 others(23): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTGTG | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0076 others(12): Show |
15 | 72 | 0.2083 | 6 | c.297 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG02155.hp2 NA18949.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show |
8 | 166 | 0.0482 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTCTGTG | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 a0002c0003t0001g0097 a0002c0003t0001g0120 |
4 | 174 | 0.0230 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTGTG | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02809.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(8): Show |
13 | 183 | 0.0710 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946576 | G | GCTCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(12): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0002 a0002c0003t0001g0006 a0002c0003t0001g0019 others(7): Show |
15 | 355 | 0.0423 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01975.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0014 | a0001c0001t0001a0001c0002t0003a0007c0014t0003 | a0001c0001t0001g0197 a0001c0002t0003g0016 a0001c0002t0003g0232 others(7): Show |
12 | 90 | 0.1333 | 6 | c.813 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01099.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
17 | 74 | 0.2297 | 6 | c.-27 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | |||||||
AMELY_chrY_6860918_6916752 | 6907379 | C | CAAAAAA | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 83 | 0.0120 | 6 | c.-11 others(25): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64189484 | A | ATGTGTG | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0002a0006 | a0002c0002a0002c0012a0006c0005 | a0002c0002t0006a0002c0002t0037a0002c0012t0006others(1): Show | a0002c0002t0006g0024 a0002c0002t0006g0054 a0002c0002t0037g0061 others(3): Show |
7 | 204 | 0.0343 | 6 | c.*38 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 394 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64201448 | A | AACACAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(33): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0002others(13): Show | a0001c0001t0001g0014 a0001c0003t0002g0039 a0002c0002t0002g0013 others(22): Show |
36 | 145 | 0.2483 | 6 | c.-99 others(23): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 1/1 | chrX | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0029others(1): Show | a0001c0001t0006g0000 a0001c0001t0022g0000 a0001c0001t0029g0000 others(1): Show |
5 | 289 | 0.0173 | 6 | c.-28 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0015g0000 |
6 | 290 | 0.0207 | 6 | c.-28 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56425420 | T | TCGCTGC | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0001c0001t0030a0001c0001t0038others(1): Show | a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0030g0003 others(3): Show |
6 | 154 | 0.0390 | 6 | c.-99 others(13): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 94 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATATA | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0021g0023 others(1): Show |
4 | 173 | 0.0231 | 6 | c.*39 others(17): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127880773 | T | TACACAC | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 HG02622.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0050 others(15): Show |
20 | 208 | 0.0962 | 6 | c.-39 others(23): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACACAC | intron_variant | MODIFIER | HG01258.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0053 |
2 | 106 | 0.0189 | 6 | c.585 others(21): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110226606 | C | CAAAACA | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 others(4): Show |
7 | 153 | 0.0458 | 6 | c.585 others(23): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0001g0219 others(6): Show |
9 | 65 | 0.1385 | 6 | c.703 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31695487 | C | CTTTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(99): Show |
123 | 220 | 0.5591 | 6 | c.591 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0001t0001g0331 others(11): Show |
14 | 34 | 0.4118 | 6 | c.317 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31710551 | T | TACACAC | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(13): Show |
16 | 59 | 0.2712 | 6 | c.39- others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31722130 | G | GACACAC | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0145 others(3): Show |
6 | 64 | 0.0938 | 6 | c.38+ others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31730080 | T | TGGTTGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(314): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(285): Show |
317 | 430 | 0.7372 | 6 | c.-10 others(17): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1060 | chr12 | TogoVar | |||||||
AMN_chr14_102917663_102935842 | 102930656 | C | CGCCGGG | disruptive_inframe_insertion | MODERATE | HG01070.hp1 HG01071.hp2 HG02886.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0081 |
4 | 450 | 0.0089 | 6 | c.134 others(15): Show |
p.Gly others(13): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 12/12 | 1375/1550 | 1349/1362 | 450/453 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
AMOTL1_chr11_94763356_94881748 | 94864250 | C | CAATAAT | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040 | a0001c0001t0039g0112 a0001c0001t0040g0144 |
2 | 175 | 0.0114 | 6 | c.213 others(23): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94873776 | T | TACACAC | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01123.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0007a0001c0001t0022a0001c0001t0026others(4): Show | a0001c0001t0007g0045 a0001c0001t0007g0094 a0001c0001t0007g0130 others(17): Show |
20 | 114 | 0.1754 | 6 | c.*30 others(17): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3019 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94873781 | A | ACACACG | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0031 | a0001c0002t0018g0060 a0001c0002t0018g0088 a0001c0002t0018g0139 others(1): Show |
4 | 244 | 0.0164 | 6 | c.*29 others(17): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 2992 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(5): Show |
9 | 61 | 0.1475 | 6 | c.-61 others(23): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
AMOTL2_chr3_134350347_134379447 | 134374901 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03927.hp2 NA18522.hp1 |
a0001a0015 | a0001c0001a0015c0022 | a0001c0001t0002a0001c0001t0033a0015c0022t0037 | a0001c0001t0002g0107 a0001c0001t0033g0106 a0015c0022t0037g0108 |
3 | 261 | 0.0115 | 6 | c.-62 others(15): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 455 | chr3 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112783691 | A | ATGTGTG | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01192.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0023a0001c0002t0002others(1): Show | a0001c0001t0008g0125 a0001c0001t0008g0135 a0001c0001t0023g0154 others(13): Show |
16 | 178 | 0.0899 | 6 | c.211 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 10/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112795247 | T | TGTGTGC | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0001t0004g0142 others(3): Show |
6 | 268 | 0.0224 | 6 | c.177 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112825035 | G | GCACACA | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004a0001c0007t0020 | a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0153 others(2): Show |
5 | 189 | 0.0265 | 6 | c.-63 others(19): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | |||||||
AMPD1_chr1_114668098_114700546 | 114668520 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(23): Show |
35 | 136 | 0.2574 | 6 | c.*45 others(17): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4577 | chr1 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01516.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0331 others(12): Show |
15 | 107 | 0.1402 | 6 | c.-51 others(17): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38390961 | C | CAGAGAG | intron_variant | MODIFIER | HG00621.hp1 HG01346.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0062 a0001c0001t0001g0107 a0001c0001t0001g0253 others(1): Show |
4 | 23 | 0.1739 | 6 | c.187 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38398985 | C | CAATTTA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(23): Show |
a0002a0008 | a0002c0004a0002c0008a0008c0014 | a0002c0004t0003a0002c0004t0005a0002c0008t0002others(2): Show | a0002c0004t0003g0184 a0002c0004t0005g0035 a0002c0004t0005g0051 others(23): Show |
26 | 286 | 0.0909 | 6 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406715 | T | TCTCTCC | intron_variant | MODIFIER | HG00099.hp2 HG02071.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 a0001c0001t0003g0133 a0001c0001t0003g0215 |
3 | 284 | 0.0106 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406719 | T | TCCTCTC | intron_variant | MODIFIER | HG00558.hp1 NA18963.hp2 NA18971.hp2 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0005 | a0002c0004t0003g0184 a0002c0004t0005g0076 a0002c0004t0005g0186 |
3 | 261 | 0.0115 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTC | intron_variant | MODIFIER | HG01243.hp1 HG02683.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0222 a0001c0001t0001g0252 a0001c0003t0002g0014 others(3): Show |
6 | 149 | 0.0403 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar |