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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D16_chr17_79927343_80040872 | 80033352 | TTTGTTG | T | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01261.hp1 others(23): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(19): Show | a0001c0001t0002g0095 a0001c0001t0004g0096 a0001c0001t0004g0103 others(23): Show |
26 | 334 | 0.0778 | -6 | c.-63 others(23): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
TBC1D19_chr4_26579084_26761223 | 26584424 | GACAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(5): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(101): Show |
105 | 310 | 0.3387 | -6 | c.99+ others(19): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26604884 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(38): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(38): Show |
41 | 310 | 0.1323 | -6 | c.100 others(23): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26622234 | TAAAGTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(104): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0004c0012others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0010others(3): Show | a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 others(103): Show |
107 | 310 | 0.3452 | -6 | c.294 others(23): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 4/20 | chr4 | TogoVar | |||||||
TBC1D19_chr4_26579084_26761223 | 26668986 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(74): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0082 a0001c0001t0002g0151 a0001c0001t0002g0152 others(74): Show |
77 | 310 | 0.2484 | -6 | c.664 others(23): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26726126 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(107): Show |
111 | 310 | 0.3581 | -6 | c.108 others(25): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 37921109 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp2 HG02258.hp2 others(19): Show |
a0001a0002a0025 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(10): Show | a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0009g0125 others(19): Show |
22 | 310 | 0.0710 | -6 | c.417 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 37933433 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(96): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0007others(32): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0016others(66): Show | a0001c0001t0005g0196 a0001c0001t0011g0251 a0001c0001t0016g0247 others(96): Show |
99 | 310 | 0.3194 | -6 | c.417 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 37945512 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02129.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0019a0002c0004a0003c0009others(1): Show | a0001c0019t0001a0001c0019t0004a0002c0004t0003others(2): Show | a0001c0019t0001g0131 a0001c0019t0004g0101 a0002c0004t0003g0132 others(3): Show |
6 | 310 | 0.0194 | -6 | c.417 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38052167 | CTGTGTG | C | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02602.hp2 others(1): Show |
a0001a0005a0008 | a0001c0001a0005c0017a0008c0012 | a0001c0001t0011a0005c0017t0002a0008c0012t0003others(1): Show | a0001c0001t0011g0120 a0005c0017t0002g0033 a0008c0012t0003g0163 others(1): Show |
4 | 310 | 0.0129 | -6 | c.207 others(23): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38052728 | GCACACA | G | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01361.hp2 others(1): Show |
a0002a0004 | a0002c0004a0004c0002 | a0002c0004t0001a0004c0002t0004 | a0002c0004t0001g0123 a0002c0004t0001g0228 a0004c0002t0004g0165 others(1): Show |
4 | 310 | 0.0129 | -6 | c.207 others(23): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38052759 | CACACAG | C | intron_variant | MODIFIER | HG00544.hp2 HG02109.hp2 HG02132.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0008a0001c0001t0011a0001c0007t0017others(12): Show | a0001c0001t0008g0118 a0001c0001t0011g0117 a0001c0007t0017g0272 others(13): Show |
16 | 310 | 0.0516 | -6 | c.207 others(23): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 12/21 | chr4 | TogoVar | |||||||
TBC1D1_chr4_37886084_38144173 | 38104159 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0038a0001c0039others(3): Show | a0001c0001t0035a0001c0038t0020a0001c0039t0019others(3): Show | a0001c0001t0035g0235 a0001c0038t0020g0221 a0001c0039t0019g0219 others(4): Show |
7 | 310 | 0.0226 | -6 | c.283 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38135918 | GTGTATA | G | intron_variant | MODIFIER | HG00639.hp2 HG03490.hp1 HG03492.hp1 |
a0001a0003 | a0001c0005a0003c0009 | a0001c0005t0003a0003c0009t0003 | a0001c0005t0003g0098 a0003c0009t0003g0078 a0003c0009t0003g0079 |
3 | 310 | 0.0097 | -6 | c.358 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 38135924 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG02970.hp2 HG03195.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0039others(1): Show | a0001c0001t0009a0001c0001t0019a0001c0005t0030others(2): Show | a0001c0001t0009g0249 a0001c0001t0019g0170 a0001c0005t0030g0236 others(2): Show |
5 | 310 | 0.0161 | -6 | c.358 others(25): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D20_chr20_430480_467533 | 453153 | CAAAAAA | C | intron_variant | MODIFIER | HG02083.hp1 HG02129.hp1 HG02132.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0185 a0001c0001t0004g0179 a0001c0001t0005g0022 others(10): Show |
16 | 402 | 0.0398 | -6 | c.71- others(21): Show |
TBC1D20 | ENSG00000125875.15 | transcript | ENST00000354200.5 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
TBC1D20_chr20_430480_467533 | 466637 | GTATATA | G | upstream_gene_variant | MODIFIER | HG01993.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0027 a0001c0001t0001g0291 a0001c0001t0004g0008 |
4 | 402 | 0.0100 | -6 | c.-42 others(17): Show |
TBC1D20 | ENSG00000125875.15 | transcript | ENST00000354200.5 | protein_coding | 4105 | chr20 | TogoVar | |||||||
TBC1D21_chr15_73868564_73894214 | 73877514 | TAAAAAA | T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01361.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0060 others(9): Show |
15 | 382 | 0.0393 | -6 | c.60+ others(21): Show |
TBC1D21 | ENSG00000167139.9 | transcript | ENST00000300504.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TBC1D21_chr15_73868564_73894214 | 73885815 | TACACAC | T | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01192.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0068 a0001c0001t0001g0138 a0001c0001t0001g0139 others(3): Show |
7 | 382 | 0.0183 | -6 | c.580 others(21): Show |
TBC1D21 | ENSG00000167139.9 | transcript | ENST00000300504.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TBC1D21_chr15_73868564_73894214 | 73888582 | TTCCTCC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 4 | 382 | 0.0105 | -6 | c.978 others(19): Show |
TBC1D21 | ENSG00000167139.9 | transcript | ENST00000300504.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46763394 | GTTTTTT | G | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0003 others(8): Show |
11 | 112 | 0.0982 | -6 | c.62+ others(19): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46765957 | ATGTGTG | A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01243.hp2 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 others(25): Show |
28 | 112 | 0.2500 | -6 | c.62+ others(21): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46847918 | GGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG01978.hp2 HG03239.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0001 | a0001c0001t0001g0078 a0001c0001t0003g0069 a0003c0005t0001g0066 |
3 | 112 | 0.0268 | -6 | c.638 others(25): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46847952 | TGTGCGC | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00642.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0057 others(21): Show |
24 | 112 | 0.2143 | -6 | c.638 others(25): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46897646 | TTTTGTG | T | intron_variant | MODIFIER | HG02074.hp1 HG02451.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0072 others(6): Show |
9 | 112 | 0.0804 | -6 | c.900 others(23): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46898513 | GTCTGGC | G | intron_variant | MODIFIER | HG00741.hp1 HG01978.hp1 HG02027.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(21): Show |
24 | 112 | 0.2143 | -6 | c.900 others(23): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46929699 | GGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(80): Show |
83 | 112 | 0.7411 | -6 | c.101 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46940836 | ATATATG | A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0020g0038 |
3 | 112 | 0.0268 | -6 | c.101 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46941108 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(13): Show |
16 | 112 | 0.1429 | -6 | c.101 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46941828 | TAGAATA | T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0002g0018 others(13): Show |
16 | 112 | 0.1429 | -6 | c.101 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46941934 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01069.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(9): Show |
12 | 112 | 0.1071 | -6 | c.101 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46981975 | GATAGAC | G | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0024 a0001c0001t0006g0108 a0001c0001t0006g0110 |
3 | 112 | 0.0268 | -6 | c.112 others(25): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 9/12 | chr22 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47076404 | CACACAT | C | intron_variant | MODIFIER | HG00642.hp1 HG02074.hp1 HG02735.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0072 a0001c0001t0003g0063 a0001c0001t0005g0055 others(3): Show |
6 | 112 | 0.0536 | -6 | c.133 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47076406 | CACATAT | C | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001 | a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0009g0043 others(1): Show |
4 | 112 | 0.0357 | -6 | c.133 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47076757 | ACAACAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0052 |
2 | 112 | 0.0179 | -6 | c.133 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47083348 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0051 others(42): Show |
45 | 112 | 0.4018 | -6 | c.133 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47091102 | GTCATCT | G | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0037 |
2 | 112 | 0.0179 | -6 | c.133 others(27): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47168733 | TGTCACC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01515.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0003c0005t0001 | a0001c0001t0001g0071 a0001c0001t0004g0092 a0003c0005t0001g0066 |
3 | 112 | 0.0268 | -6 | c.142 others(25): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22B_chr6_37252772_37337970 | 37261944 | AGTGTGT | A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 others(6): Show |
9 | 222 | 0.0405 | -6 | c.56+ others(21): Show |
TBC1D22B | ENSG00000065491.8 | transcript | ENST00000373491.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBC1D22B_chr6_37252772_37337970 | 37325540 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0110 others(106): Show |
112 | 222 | 0.5045 | -6 | c.139 others(25): Show |
TBC1D22B | ENSG00000065491.8 | transcript | ENST00000373491.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBC1D22B_chr6_37252772_37337970 | 37330222 | CTTTTTT | C | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 others(5): Show |
8 | 222 | 0.0360 | -6 | c.139 others(23): Show |
TBC1D22B | ENSG00000065491.8 | transcript | ENST00000373491.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBC1D23_chr3_100255992_100330238 | 100309610 | CTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0040 others(6): Show |
13 | 358 | 0.0363 | -6 | c.141 others(23): Show |
TBC1D23 | ENSG00000036054.13 | transcript | ENST00000394144.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TBC1D24_chr16_2470127_2510730 | 2506331 | CTCTATA | C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0146 |
4 | 256 | 0.0156 | -6 | c.*53 others(17): Show |
TBC1D24 | ENSG00000162065.14 | transcript | ENST00000646147.1 | protein_coding | 602 | chr16 | TogoVar | |||||||
TBC1D24_chr16_2470127_2510730 | 2506333 | CTATATA | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0014 a0001c0001t0002g0100 a0001c0001t0002g0101 others(10): Show |
15 | 256 | 0.0586 | -6 | c.*53 others(17): Show |
TBC1D24 | ENSG00000162065.14 | transcript | ENST00000646147.1 | protein_coding | 604 | chr16 | TogoVar | |||||||
TBC1D25_chrX_48534714_48567609 | 48560380 | CCAGTCA | C | disruptive_inframe_deletion | MODERATE | NA19072.hp1 | a0005 | a0005c0010 | a0005c0010t0011 | a0005c0010t0011g0179 | 1 | 294 | 0.0034 | -6 | c.147 others(15): Show |
p.Ser others(13): Show |
TBC1D25 | ENSG00000068354.16 | transcript | ENST00000376771.9 | protein_coding | 6/6 | 1557/3785 | 1473/2067 | 491/688 | chrX | TogoVar | |||
TBC1D28_chr17_18629247_18649391 | 18645969 | GCGCACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01358.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(7): Show |
20 | 466 | 0.0429 | -6 | c.-19 others(17): Show |
TBC1D28 | ENSG00000189375.12 | transcript | ENST00000405044.7 | protein_coding | 1579 | chr17 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78011644 | GGTTTTT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01516.hp2 others(12): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0013a0001c0002t0017a0001c0002t0019others(1): Show | a0001c0002t0013g0021 a0001c0002t0013g0022 a0001c0002t0013g0023 others(12): Show |
15 | 280 | 0.0536 | -6 | c.227 others(25): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78039751 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(46): Show |
a0001a0006a0010 | a0001c0001a0001c0002a0006c0013others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(15): Show | a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0157 others(45): Show |
49 | 280 | 0.1750 | -6 | c.683 others(23): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78075113 | CTTCAAG | C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0006a0001c0005t0011a0001c0005t0029others(1): Show | a0001c0005t0006g0016 a0001c0005t0006g0017 a0001c0005t0006g0018 others(7): Show |
10 | 280 | 0.0357 | -6 | c.360 others(23): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
TBC1D2_chr9_98194011_98260649 | 98240166 | GGTGTGT | G | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02615.hp1 others(5): Show |
a0002a0003a0018others(2): Show | a0002c0003a0003c0004a0003c0011others(3): Show | a0002c0003t0001a0003c0004t0001a0003c0011t0001others(3): Show | a0002c0003t0001g0282 a0002c0003t0001g0327 a0003c0004t0001g0045 others(5): Show |
8 | 366 | 0.0219 | -6 | c.647 others(23): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 3/12 | chr9 | TogoVar |