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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69591522 | TC | T | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0021a0001c0001t0135a0001c0007t0014others(4): Show | a0001c0001t0021g0278 a0001c0001t0135g0269 a0001c0007t0014g0270 others(6): Show |
9 | 296 | 0.0304 | -1 | c.164 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69596221 | CT | C | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0100a0001c0004t0017a0001c0004t0063others(3): Show | a0001c0001t0100g0108 a0001c0004t0017g0064 a0001c0004t0017g0066 others(5): Show |
8 | 200 | 0.0400 | -1 | c.164 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69597196 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(48): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(80): Show |
83 | 295 | 0.2814 | -1 | c.164 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69597707 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(59): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(106): Show |
109 | 214 | 0.5093 | -1 | c.164 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69599398 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(41): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(81): Show |
84 | 295 | 0.2847 | -1 | c.164 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69599944 | AT | A | intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG02257.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0059others(6): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0005g0265 others(7): Show |
10 | 220 | 0.0455 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69600290 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0152 a0001c0001t0002g0081 a0001c0001t0005g0197 others(66): Show |
69 | 284 | 0.2430 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69605397 | TC | T | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0112a0002c0005t0117a0002c0005t0118others(1): Show | a0001c0001t0112g0189 a0002c0005t0117g0182 a0002c0005t0118g0183 others(1): Show |
4 | 296 | 0.0135 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69607046 | CA | C | intron_variant | MODIFIER | HG01074.hp1 HG01952.hp2 HG02451.hp1 others(14): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0002c0002others(1): Show | a0001c0003t0008a0001c0003t0022a0001c0003t0026others(8): Show | a0001c0003t0008g0087 a0001c0003t0008g0095 a0001c0003t0008g0096 others(14): Show |
17 | 172 | 0.0988 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69609986 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(50): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(83): Show |
86 | 296 | 0.2905 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69610050 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01975.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0112others(10): Show | a0001c0001t0001g0117 a0001c0001t0001g0159 a0001c0001t0012g0079 others(12): Show |
15 | 224 | 0.0670 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69616467 | AT | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0041a0001c0001t0054a0001c0001t0059others(7): Show | a0001c0001t0041g0287 a0001c0001t0054g0289 a0001c0001t0059g0288 others(9): Show |
12 | 296 | 0.0405 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69623772 | CT | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0002a0001c0001t0012a0001c0001t0069others(3): Show | a0001c0001t0002g0078 a0001c0001t0012g0073 a0001c0001t0012g0079 others(6): Show |
9 | 296 | 0.0304 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69627296 | GA | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(32): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(61): Show |
64 | 284 | 0.2254 | -1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633599 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(104): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0069others(57): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0078 others(104): Show |
107 | 200 | 0.5350 | -1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69634177 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(39): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(79): Show |
82 | 296 | 0.2770 | -1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69636225 | TA | T | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0016 | a0001c0001t0012a0001c0001t0111a0001c0001t0113others(7): Show | a0001c0001t0012g0059 a0001c0001t0111g0186 a0001c0001t0113g0185 others(7): Show |
10 | 296 | 0.0338 | -1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69643085 | AT | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG02165.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0107a0001c0001t0108others(3): Show | a0001c0001t0013g0172 a0001c0001t0013g0174 a0001c0001t0013g0175 others(6): Show |
9 | 75 | 0.1200 | -1 | c.-46 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | TC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01167.hp1 HG01243.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0053others(16): Show | a0001c0001t0002g0013 a0001c0001t0012g0073 a0001c0001t0053g0093 others(18): Show |
21 | 49 | 0.4286 | -1 | c.-82 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69647723 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(30): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(49): Show |
52 | 296 | 0.1757 | -1 | c.-43 others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3985 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77822414 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01167.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 others(15): Show |
18 | 161 | 0.1118 | -1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77823619 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(68): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 others(65): Show |
71 | 378 | 0.1878 | -1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77823621 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0111 others(6): Show |
9 | 129 | 0.0698 | -1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77828670 | GA | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0198 a0001c0002t0001g0014 a0001c0002t0001g0023 others(7): Show |
10 | 376 | 0.0266 | -1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG01243.hp2 HG02135.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0151 others(13): Show |
16 | 107 | 0.1495 | -1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77831694 | CT | C | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01433.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0121 others(20): Show |
23 | 317 | 0.0726 | -1 | c.-19 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77831862 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0153 others(133): Show |
141 | 331 | 0.4260 | -1 | c.-18 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832330 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(295): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(285): Show |
298 | 379 | 0.7863 | -1 | c.-18 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832697 | GA | G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0303 a0001c0002t0001g0023 a0001c0002t0001g0088 others(6): Show |
9 | 378 | 0.0238 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77833004 | TA | T | intron_variant | MODIFIER | HG01934.hp1 HG02056.hp1 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0106 a0001c0001t0001g0360 a0001c0002t0001g0093 others(6): Show |
9 | 380 | 0.0237 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77833006 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0098 others(130): Show |
138 | 380 | 0.3632 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77833008 | TA | T | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG02257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0109 a0001c0001t0001g0167 others(16): Show |
21 | 380 | 0.0553 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77833009 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0153 others(10): Show |
13 | 125 | 0.1040 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77834441 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0295 a0001c0002t0001g0014 a0001c0002t0001g0017 others(114): Show |
121 | 235 | 0.5149 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77837489 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0023 others(77): Show |
83 | 380 | 0.2184 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77837799 | AT | A | intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 |
3 | 380 | 0.0079 | -1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77841511 | CA | C | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 others(1): Show |
4 | 380 | 0.0105 | -1 | c.-18 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77846007 | AT | A | intron_variant | MODIFIER | HG01975.hp2 HG02071.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0307 others(5): Show |
8 | 380 | 0.0211 | -1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77849038 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG02451.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0001 | a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0347 others(3): Show |
6 | 380 | 0.0158 | -1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850953 | CT | C | intron_variant | MODIFIER | HG01074.hp2 HG01928.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0311 a0001c0001t0001g0347 a0001c0002t0001g0015 others(6): Show |
9 | 243 | 0.0370 | -1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77853993 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(68): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0014 a0001c0002t0002g0009 a0001c0002t0002g0010 others(66): Show |
71 | 158 | 0.4494 | -1 | c.132 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858194 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(176): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(168): Show |
179 | 260 | 0.6885 | -1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858302 | CT | C | intron_variant | MODIFIER | HG01168.hp1 HG01243.hp2 HG01515.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0114 others(10): Show |
13 | 209 | 0.0622 | -1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77867312 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0023 others(152): Show |
160 | 380 | 0.4211 | -1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77869194 | AT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 |
3 | 380 | 0.0079 | -1 | c.133 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77869312 | CT | C | intron_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0149 a0001c0001t0001g0315 a0001c0001t0001g0322 others(4): Show |
7 | 199 | 0.0352 | -1 | c.133 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77870329 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0131 others(80): Show |
85 | 338 | 0.2515 | -1 | c.228 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77876745 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(53): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(50): Show |
56 | 380 | 0.1474 | -1 | c.*44 others(6): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4394 | chr11 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218268694 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(23): Show |
187 | 383 | 0.4883 | -1 | c.274 others(8): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273446 | GT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(169): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(25): Show |
172 | 374 | 0.4599 | -1 | c.-33 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3310 | chr2 | TogoVar |