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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTBK2_chr15_42733730_42925778 | 42838353 | G | GGT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0005g0133 others(17): Show |
20 | 248 | 0.0807 | 2 | c.291 others(19): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 4/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42843758 | C | CAA | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0022 | a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0192 others(7): Show |
10 | 248 | 0.0403 | 2 | c.218 others(19): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 3/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42860640 | C | CTT | intron_variant | MODIFIER | HG00621.hp1 HG02129.hp1 HG02132.hp1 others(16): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0007a0003c0003others(3): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0028others(9): Show | a0001c0001t0013g0012 a0001c0001t0013g0013 a0001c0001t0015g0008 others(16): Show |
19 | 248 | 0.0766 | 2 | c.217 others(21): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 3/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42865507 | T | TAA | intron_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG03130.hp1 others(2): Show |
a0001a0008 | a0001c0005a0008c0010 | a0001c0005t0001a0001c0005t0020a0001c0005t0037others(1): Show | a0001c0005t0001g0027 a0001c0005t0001g0028 a0001c0005t0020g0024 others(2): Show |
5 | 248 | 0.0202 | 2 | c.217 others(19): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 3/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42874976 | A | ACT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(244): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0123 others(243): Show |
247 | 248 | 0.9960 | 2 | c.70- others(17): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42875905 | C | CAA | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01167.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0007g0181 others(8): Show |
11 | 248 | 0.0444 | 2 | c.69+ others(17): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42878492 | T | TAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0002g0123 a0001c0001t0002g0161 a0001c0001t0002g0168 others(151): Show |
155 | 248 | 0.6250 | 2 | c.69+ others(13): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42882447 | A | AAT | intron_variant | MODIFIER | HG00423.hp1 HG02970.hp2 HG02976.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0002a0001c0001t0007a0001c0005t0001others(2): Show | a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 others(10): Show |
13 | 248 | 0.0524 | 2 | c.-67 others(19): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 1/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42892704 | C | CAA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02055.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0079 a0001c0001t0007g0185 a0001c0001t0008g0132 others(6): Show |
9 | 248 | 0.0363 | 2 | c.-67 others(21): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 1/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42897823 | T | TAC | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02074.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0028a0001c0001t0042a0002c0002t0001others(6): Show | a0001c0001t0028g0010 a0001c0001t0042g0203 a0002c0002t0001g0059 others(13): Show |
17 | 248 | 0.0686 | 2 | c.-67 others(21): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 1/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42911961 | T | TAC | intron_variant | MODIFIER | HG02129.hp2 HG02922.hp2 NA18950.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001a0004c0004t0035 | a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0119 others(2): Show |
6 | 248 | 0.0242 | 2 | c.-68 others(19): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 1/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42922534 | G | GCA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG01981.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0039others(8): Show | a0001c0001t0002g0123 a0001c0001t0002g0161 a0001c0001t0002g0162 others(25): Show |
28 | 248 | 0.1129 | 2 | c.-21 others(13): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 1757 | chr15 | TogoVar | |||||||
TTC12_chr11_113309583_113371387 | 113362342 | T | TAA | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0107 |
4 | 344 | 0.0116 | 2 | c.161 others(17): Show |
TTC12 | ENSG00000149292.17 | transcript | ENST00000529221.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC12_chr11_113309583_113371387 | 113367720 | C | CAG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(230): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(171): Show |
233 | 344 | 0.6773 | 2 | c.*14 others(13): Show |
TTC12 | ENSG00000149292.17 | transcript | ENST00000529221.6 | protein_coding | 1334 | chr11 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230902203 | A | ACC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00741.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004 a0001c0002t0001g0133 a0001c0002t0001g0149 others(15): Show |
22 | 336 | 0.0655 | 2 | c.*47 others(13): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 4039 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230902387 | T | TAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(77): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0097 others(70): Show |
80 | 336 | 0.2381 | 2 | c.*45 others(13): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 3855 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230915356 | A | ATG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(237): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(213): Show |
240 | 336 | 0.7143 | 2 | c.209 others(19): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230932296 | A | ATT | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03491.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 a0002c0003t0001g0040 a0002c0003t0001g0060 others(3): Show |
7 | 336 | 0.0208 | 2 | c.984 others(17): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 9/22 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230955507 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0002g0197 a0001c0002t0002g0195 a0001c0002t0002g0196 others(5): Show |
8 | 336 | 0.0238 | 2 | c.443 others(19): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230962210 | C | CAA | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01261.hp1 others(18): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0153 a0001c0002t0001g0163 a0001c0002t0002g0018 others(16): Show |
21 | 336 | 0.0625 | 2 | c.272 others(17): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230971345 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(16): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(115): Show |
133 | 336 | 0.3958 | 2 | c.271 others(19): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230980762 | T | TAA | upstream_gene_variant | MODIFIER | HG04115.hp1 NA18994.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0101 a0001c0002t0001g0122 a0001c0002t0001g0126 |
3 | 336 | 0.0089 | 2 | c.-19 others(13): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 1902 | chr1 | TogoVar | |||||||
TTC13_chr1_230901243_230983861 | 230983412 | C | CAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(94): Show |
110 | 336 | 0.3274 | 2 | c.-45 others(13): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 4552 | chr1 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127723905 | C | CAA | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01433.hp1 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0002a0002c0003a0003c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0002others(6): Show | a0001c0002t0001g0120 a0001c0002t0002g0021 a0001c0002t0002g0125 others(17): Show |
22 | 334 | 0.0659 | 2 | c.873 others(17): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127724104 | A | ATG | intron_variant | MODIFIER | HG01358.hp1 HG03239.hp1 NA19240.hp2 |
a0001a0002a0031 | a0001c0002a0002c0003a0031c0037 | a0001c0002t0002a0002c0003t0002a0031c0037t0002 | a0001c0002t0002g0118 a0002c0003t0002g0037 a0031c0037t0002g0094 |
3 | 334 | 0.0090 | 2 | c.873 others(15): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 7/13 | chr9 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127736258 | T | TCA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(27): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0089 others(25): Show |
30 | 334 | 0.0898 | 2 | c.*48 others(13): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 4669 | chr9 | TogoVar | |||||||
TTC17_chr11_43353920_43499931 | 43362149 | T | TTG | intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0059 a0001c0001t0001g0161 a0001c0001t0001g0163 others(14): Show |
17 | 298 | 0.0571 | 2 | c.159 others(19): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43367714 | C | CTG | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01255.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0071 others(32): Show |
35 | 298 | 0.1175 | 2 | c.159 others(19): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43372231 | G | GTA | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01257.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0035 a0001c0001t0001g0070 a0001c0001t0001g0071 others(31): Show |
34 | 298 | 0.1141 | 2 | c.160 others(19): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43379458 | A | ATG | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01496.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0079 a0001c0001t0001g0134 a0001c0001t0001g0135 others(19): Show |
22 | 298 | 0.0738 | 2 | c.249 others(17): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43397901 | C | CGT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0079 others(9): Show |
12 | 298 | 0.0403 | 2 | c.919 others(15): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43412981 | G | GAC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 others(28): Show |
31 | 298 | 0.1040 | 2 | c.206 others(21): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43430709 | G | GCA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(55): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(55): Show |
58 | 298 | 0.1946 | 2 | c.225 others(23): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43434168 | G | GAC | intron_variant | MODIFIER | HG02818.hp2 HG03540.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0079 a0001c0001t0001g0136 |
3 | 298 | 0.0101 | 2 | c.225 others(21): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43444722 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 others(108): Show |
112 | 298 | 0.3758 | 2 | c.266 others(19): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43456179 | A | AAC | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01243.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0002 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0025 others(37): Show |
40 | 298 | 0.1342 | 2 | c.303 others(21): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43461390 | C | CAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0006others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0061 others(44): Show |
47 | 298 | 0.1577 | 2 | c.303 others(23): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43462089 | T | TAA | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01891.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0006others(1): Show | a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0002t0001g0190 others(4): Show |
7 | 298 | 0.0235 | 2 | c.303 others(23): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43490854 | C | CAA | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp1 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0002t0001a0004c0009t0001 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 others(27): Show |
30 | 298 | 0.1007 | 2 | c.315 others(19): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TTC17_chr11_43353920_43499931 | 43497565 | C | CAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(113): Show |
117 | 298 | 0.3926 | 2 | c.*36 others(13): Show |
TTC17 | ENSG00000052841.16 | transcript | ENST00000039989.9 | protein_coding | 2635 | chr11 | TogoVar | |||||||
TTC19_chr17_15994824_16034404 | 15995575 | T | TAA | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029a0001c0001t0031others(1): Show | a0001c0001t0020g0008 a0001c0001t0029g0008 a0001c0001t0031g0090 others(1): Show |
7 | 328 | 0.0213 | 2 | c.-42 others(13): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 4248 | chr17 | TogoVar | |||||||
TTC19_chr17_15994824_16034404 | 15997155 | C | CAA | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02559.hp1 HG02965.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0029a0001c0001t0040others(6): Show | a0001c0001t0006g0176 a0001c0001t0029g0008 a0001c0001t0040g0168 others(9): Show |
16 | 328 | 0.0488 | 2 | c.-26 others(13): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 2668 | chr17 | TogoVar | |||||||
TTC19_chr17_15994824_16034404 | 16003770 | C | CAT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0142 others(12): Show |
20 | 328 | 0.0610 | 2 | c.463 others(15): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTC19_chr17_15994824_16034404 | 16009270 | A | AGT | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 NA18906.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0056a0002c0003t0064 | a0001c0001t0016g0030 a0002c0003t0056g0087 a0002c0003t0064g0088 |
4 | 328 | 0.0122 | 2 | c.676 others(19): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTC19_chr17_15994824_16034404 | 16016552 | A | ATT | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02040.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0001g0034 a0001c0001t0003g0034 a0001c0001t0003g0102 others(13): Show |
18 | 328 | 0.0549 | 2 | c.677 others(19): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTC19_chr17_15994824_16034404 | 16019965 | T | TAA | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0001t0028a0001c0001t0040others(2): Show | a0001c0001t0010g0007 a0001c0001t0010g0177 a0001c0001t0010g0178 others(4): Show |
9 | 328 | 0.0274 | 2 | c.677 others(19): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTC19_chr17_15994824_16034404 | 16024462 | A | ATT | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp2 HG02145.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0042a0001c0001t0049others(6): Show | a0001c0001t0011g0022 a0001c0001t0011g0032 a0001c0001t0042g0179 others(11): Show |
20 | 328 | 0.0610 | 2 | c.677 others(17): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTC19_chr17_15994824_16034404 | 16028757 | C | CTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(167): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(56): Show | a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0012 others(133): Show |
170 | 328 | 0.5183 | 2 | c.*12 others(13): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 10/10 | 1238 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TTC19_chr17_15994824_16034404 | 16028818 | C | CAA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01106.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018a0001c0001t0058 | a0001c0001t0006g0017 a0001c0001t0006g0023 a0001c0001t0006g0042 others(7): Show |
16 | 328 | 0.0488 | 2 | c.*13 others(13): Show |
TTC19 | ENSG00000011295.16 | transcript | ENST00000261647.10 | protein_coding | 10/10 | 1325 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TTC1_chr5_160004139_160070543 | 160004253 | C | CAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01081.hp1 others(60): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0260 a0001c0001t0001g0266 others(59): Show |
63 | 384 | 0.1641 | 2 | c.-49 others(13): Show |
TTC1 | ENSG00000113312.12 | transcript | ENST00000231238.10 | protein_coding | 4885 | chr5 | TogoVar |