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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTYH2_chr17_74208571_74267020 | 74223290 | GGC | G | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0009t0005a0002c0002t0003others(7): Show | a0001c0001t0001g0312 a0001c0009t0005g0074 a0002c0002t0003g0317 others(15): Show |
18 | 352 | 0.0511 | -2 | c.302 others(17): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74224385 | TAC | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0007a0005c0010 | a0001c0001t0001a0005c0007t0018a0005c0010t0002others(1): Show | a0001c0001t0001g0091 a0005c0007t0018g0097 a0005c0010t0002g0098 others(5): Show |
8 | 352 | 0.0227 | -2 | c.302 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74227749 | GTT | G | intron_variant | MODIFIER | HG01074.hp1 HG02622.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0011others(2): Show | a0001c0001t0001a0002c0002t0003a0007c0011t0001others(2): Show | a0001c0001t0001g0312 a0002c0002t0003g0317 a0007c0011t0001g0309 others(6): Show |
9 | 352 | 0.0256 | -2 | c.303 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74241262 | CGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(74): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(8): Show | a0001c0001t0001a0001c0009t0005a0002c0002t0001others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0033 others(61): Show |
77 | 352 | 0.2188 | -2 | c.636 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74247181 | CAA | C | intron_variant | MODIFIER | HG01517.hp1 HG02109.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0011others(1): Show | a0001c0001t0001a0002c0002t0003a0007c0011t0001others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0048 a0002c0002t0003g0212 others(6): Show |
9 | 352 | 0.0256 | -2 | c.805 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74249131 | CTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02451.hp2 others(17): Show |
a0001a0005a0010others(1): Show | a0001c0009a0005c0010a0005c0020others(2): Show | a0001c0009t0005a0001c0009t0012a0005c0010t0002others(4): Show | a0001c0009t0005g0019 a0001c0009t0005g0074 a0001c0009t0005g0096 others(16): Show |
20 | 352 | 0.0568 | -2 | c.874 others(15): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74251054 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
a0001a0002a0003others(11): Show | a0001c0014a0002c0002a0002c0019others(13): Show | a0001c0014t0001a0001c0014t0010a0002c0002t0001others(23): Show | a0001c0014t0001g0095 a0001c0014t0001g0183 a0001c0014t0001g0306 others(120): Show |
136 | 352 | 0.3864 | -2 | c.111 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74251067 | CGT | C | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG01361.hp1 others(31): Show |
a0001a0014 | a0001c0001a0014c0024 | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0026 others(27): Show |
34 | 352 | 0.0966 | -2 | c.111 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74254181 | TTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(64): Show |
a0003a0004a0005others(5): Show | a0003c0003a0004c0006a0005c0020others(6): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0009others(10): Show | a0003c0003t0001g0127 a0003c0003t0002g0010 a0003c0003t0002g0013 others(61): Show |
67 | 352 | 0.1903 | -2 | c.152 others(19): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH3_chr7_2626986_2669802 | 2627430 | AAG | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0055 a0001c0001t0001g0196 a0001c0001t0001g0197 others(4): Show |
7 | 402 | 0.0174 | -2 | c.-47 others(13): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 4555 | chr7 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2627506 | AGG | A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(4): Show | a0001c0001t0001g0081 a0001c0001t0005g0083 a0001c0001t0021g0171 others(8): Show |
13 | 402 | 0.0323 | -2 | c.-46 others(13): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 4479 | chr7 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2629265 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(214): Show |
243 | 402 | 0.6045 | -2 | c.-28 others(13): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 2720 | chr7 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2666195 | GTT | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0096 a0001c0001t0003g0205 a0001c0001t0003g0207 others(2): Show |
5 | 402 | 0.0124 | -2 | c.*44 others(13): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 1394 | chr7 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2668685 | CTT | C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01175.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0053others(1): Show | a0001c0001t0003g0051 a0001c0001t0003g0316 a0001c0001t0004g0006 others(4): Show |
7 | 402 | 0.0174 | -2 | c.*69 others(13): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 3884 | chr7 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49182447 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show |
15 | 362 | 0.0414 | -2 | c.*25 others(13): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2347 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49184571 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(24): Show |
141 | 362 | 0.3895 | -2 | c.*43 others(11): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 223 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49188077 | GAC | G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0027 a0001c0002t0001g0003 a0001c0002t0001g0010 others(6): Show |
49 | 362 | 0.1354 | -2 | c.3+8 others(13): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49191148 | AAG | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0054 others(2): Show |
16 | 362 | 0.0442 | -2 | c.-21 others(13): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2069 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49191709 | CTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(116): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(15): Show |
119 | 362 | 0.3287 | -2 | c.-27 others(13): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2630 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49191711 | TTC | T | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0003t0001a0001c0007t0001 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 others(5): Show |
14 | 362 | 0.0387 | -2 | c.-27 others(13): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 2632 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49129740 | GAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 others(6): Show |
148 | 384 | 0.3854 | -2 | c.4-2 others(11): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49132653 | ATG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(7): Show |
157 | 384 | 0.4089 | -2 | c.-13 others(13): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 1259 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135227 | TTA | T | upstream_gene_variant | MODIFIER | HG02572.hp1 NA19001.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0012 |
5 | 384 | 0.0130 | -2 | c.-39 others(13): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3833 | chr12 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49266261 | TAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG02273.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0029a0001c0003t0003others(1): Show | a0001c0001t0012g0024 a0001c0001t0029g0024 a0001c0003t0003g0007 others(5): Show |
14 | 390 | 0.0359 | -2 | c.3+1 others(15): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBA1C_chr12_49260082_49279600 | 49268117 | GAC | G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0029a0001c0001t0030 | a0001c0001t0012g0024 a0001c0001t0029g0024 a0001c0001t0030g0085 |
4 | 390 | 0.0103 | -2 | c.4-1 others(15): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBA1C_chr12_49260082_49279600 | 49273488 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02683.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0020a0001c0001t0028a0001c0008t0041 | a0001c0001t0020g0015 a0001c0001t0020g0047 a0001c0001t0028g0015 others(2): Show |
6 | 390 | 0.0154 | -2 | c.*26 others(11): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 4/4 | 262 | chr12 | TogoVar | ||||||
TUBA1C_chr12_49260082_49279600 | 49278581 | ATT | A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp2 others(59): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0026 others(40): Show |
62 | 390 | 0.1590 | -2 | c.*53 others(13): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 3982 | chr12 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19168932 | GAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(97): Show |
162 | 448 | 0.3616 | -2 | c.*49 others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4839 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19169244 | AAT | A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01175.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0047 others(20): Show |
36 | 448 | 0.0804 | -2 | c.*46 others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4527 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19169345 | CAA | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0024 others(4): Show |
13 | 448 | 0.0290 | -2 | c.*45 others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4426 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19174433 | ATT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01123.hp2 others(15): Show |
a0001a0003a0006 | a0001c0002a0001c0012a0003c0004others(1): Show | a0001c0002t0001a0001c0012t0001a0003c0004t0002others(1): Show | a0001c0002t0001g0019 a0001c0002t0001g0127 a0001c0002t0001g0137 others(10): Show |
18 | 448 | 0.0402 | -2 | c.105 others(19): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19176725 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0225 others(38): Show |
90 | 448 | 0.2009 | -2 | c.105 others(19): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19178398 | CAA | C | splice_region_variant others(1): Show |
LOW | HG01123.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0025 a0003c0004t0002g0097 a0003c0004t0002g0104 others(4): Show |
9 | 448 | 0.0201 | -2 | c.227 others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19182659 | AAG | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 others(18): Show |
24 | 448 | 0.0536 | -2 | c.-91 others(11): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 836 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19186697 | AGT | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02809.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 others(7): Show |
12 | 448 | 0.0268 | -2 | c.-49 others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4874 | chr13 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130188866 | CAG | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(24): Show |
a0003a0006 | a0003c0003a0003c0004a0003c0017others(1): Show | a0003c0003t0003a0003c0004t0001a0003c0017t0003others(1): Show | a0003c0003t0003g0004 a0003c0003t0003g0055 a0003c0003t0003g0056 others(5): Show |
27 | 428 | 0.0631 | -2 | c.*29 others(13): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 2878 | chr2 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130189840 | GTC | G | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18943.hp1 NA18957.hp2 others(14): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 a0002c0001t0001g0007 a0002c0001t0001g0023 others(1): Show |
17 | 428 | 0.0397 | -2 | c.*19 others(13): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1904 | chr2 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130194337 | ACT | A | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG02451.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0009 | 7 | 428 | 0.0164 | -2 | c.503 others(9): Show |
p.Glu others(5): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 4/5 | 583/1518 | 503/1353 | 168/450 | chr2 | TogoVar | |||
TUBA3E_chr2_130186745_130203439 | 130203048 | CTT | C | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02818.hp1 HG02886.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0001c0032others(4): Show | a0001c0002t0002a0001c0005t0002a0001c0032t0002others(4): Show | a0001c0002t0002g0002 a0001c0005t0002g0005 a0001c0032t0002g0036 others(5): Show |
11 | 428 | 0.0257 | -2 | c.-46 others(13): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 4610 | chr2 | TogoVar | |||||||
TUBA4A_chr2_219244710_219258918 | 219257641 | CAA | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00642.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
42 | 376 | 0.1117 | -2 | c.-37 others(13): Show |
TUBA4A | ENSG00000127824.15 | transcript | ENST00000248437.9 | protein_coding | 3724 | chr2 | TogoVar | |||||||
TUBA4A_chr2_219244710_219258918 | 219257983 | GTT | G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02015.hp1 HG02257.hp1 others(26): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show |
29 | 376 | 0.0771 | -2 | c.-41 others(13): Show |
TUBA4A | ENSG00000127824.15 | transcript | ENST00000248437.9 | protein_coding | 4066 | chr2 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219257641 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00642.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0002g0093 a0001c0001t0002g0162 a0001c0001t0002g0251 others(30): Show |
40 | 350 | 0.1143 | -2 | c.12+ others(17): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219257983 | GTT | G | intron_variant | MODIFIER | HG00621.hp1 HG02015.hp1 HG02257.hp1 others(23): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0005others(1): Show | a0002c0002t0001a0002c0002t0003a0004c0004t0001others(2): Show | a0002c0002t0001g0214 a0002c0002t0003g0238 a0004c0004t0001g0190 others(23): Show |
26 | 350 | 0.0743 | -2 | c.12+ others(17): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219259118 | TAA | T | intron_variant | MODIFIER | NA18985.hp1 NA18995.hp1 NA18995.hp2 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0002a0002c0002t0001a0008c0013t0004 | a0001c0001t0002g0090 a0002c0002t0001g0091 a0008c0013t0004g0078 |
3 | 350 | 0.0086 | -2 | c.12+ others(17): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219268105 | CTT | C | intron_variant | MODIFIER | HG00621.hp1 HG02015.hp1 HG02040.hp2 others(26): Show |
a0004a0012 | a0004c0004a0012c0014 | a0004c0004t0001a0012c0014t0001 | a0004c0004t0001g0024 a0004c0004t0001g0037 a0004c0004t0001g0050 others(25): Show |
29 | 350 | 0.0829 | -2 | c.58+ others(17): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219272878 | CTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(284): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(16): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(214): Show |
287 | 350 | 0.8200 | -2 | c.*11 others(13): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 682 | chr2 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219276336 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(278): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(16): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(206): Show |
281 | 350 | 0.8029 | -2 | c.*46 others(13): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 4140 | chr2 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106483 | TGA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(148): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(101): Show |
151 | 426 | 0.3545 | -2 | c.-43 others(13): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4325 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18108631 | GAC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0033 others(17): Show |
23 | 426 | 0.0540 | -2 | c.-22 others(13): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 2177 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18114651 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(241): Show |
286 | 426 | 0.6714 | -2 | c.3+3 others(15): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |