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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADPS_chr3_62393348_62880416 | 62725554 | TTGAAGCA others(4633): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0002g0160 |
3 | 160 | 0.0188 | -4640 | c.888 others(19): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
CDH19_chr18_66496083_66609090 | 66543238 | AGGATGGT others(4633): Show |
A | exon_loss_variant | HIGH | HG00099.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0331 | 1 | 354 | 0.0028 | -4640 | c.776 others(17): Show |
CDH19 | ENSG00000071991.9 | transcript | ENST00000262150.7 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235516 | TCCCCTCT others(4627): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0051 | 1 | 106 | 0.0094 | -4634 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85406374 | TGTGACCT others(4627): Show |
T | intron_variant | MODIFIER | HG02818.hp1 NA19043.hp2 |
a0014a0037 | a0014c0026a0037c0032 | a0014c0026t0026a0037c0032t0063 | a0014c0026t0026g0228 a0037c0032t0063g0213 |
2 | 314 | 0.0064 | -4634 | c.-12 others(19): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GRAPL_chr17_19122589_19164187 | 19148825 | GTGAACCT others(4626): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 74 | 0.0135 | -4633 | c.300 others(17): Show |
GRAPL | ENSG00000189152.11 | transcript | ENST00000344415.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6585037 | ACGCCTGG others(4624): Show |
A | exon_loss_variant | HIGH | NA19005.hp1 | a0016 | a0016c0029 | a0016c0029t0001 | a0016c0029t0001g0247 | 1 | 342 | 0.0029 | -4631 | c.148 others(18): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/25 | chr9 | TogoVar | |||||||
USP15_chr12_62255404_62421389 | 62416763 | CAGGAATA others(4619): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0158 | 1 | 348 | 0.0029 | -4626 | c.*12 others(13): Show |
USP15 | ENSG00000135655.16 | transcript | ENST00000280377.10 | protein_coding | 375 | chr12 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12672772 | TGGAGGCC others(4618): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0092 | 1 | 290 | 0.0035 | -4625 | c.716 others(18): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 127003410 | GTGAGCCG others(4614): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0069 a0001c0001t0030g0070 |
2 | 296 | 0.0068 | -4621 | c.-57 others(19): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
KCTD20_chr6_36438000_36496141 | 36462832 | AGCCCCTC others(4613): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 366 | 0.0027 | -4620 | c.-46 others(17): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11368650 | GGCACGCA others(4610): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(10): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0008a0002c0003t0016a0002c0003t0022others(4): Show | a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 others(10): Show |
13 | 292 | 0.0445 | -4617 | c.187 others(19): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
TRMT44_chr4_8435777_8481555 | 8458771 | CATTTTCT others(4609): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 410 | 0.0024 | -4616 | c.120 others(18): Show |
TRMT44 | ENSG00000155275.19 | transcript | ENST00000389737.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85833686 | CCCAGAAA others(4599): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 108 | 0.0093 | -4606 | c.269 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81745936 | CAACAAAC others(4597): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01496.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0065 others(22): Show |
25 | 168 | 0.1488 | -4604 | c.249 others(17): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 3/32 | chr12 | TogoVar | |||||||
ALKBH8_chr11_107497727_107570735 | 107512781 | TGATCCTC others(4592): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 400 | 0.0050 | -4599 | c.128 others(19): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277678 | GAGGAGGA others(4589): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0001 | 1 | 50 | 0.0200 | -4596 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 16894732 | GGCCATTT others(4588): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 250 | 0.0040 | -4595 | c.327 others(18): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235686 | CCCTCTGC others(4582): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0047 | a0002c0004t0047g0063 | 1 | 106 | 0.0094 | -4589 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ZNF665_chr19_53157424_53198358 | 53185014 | AAAGGCAG others(4580): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 408 | 0.0025 | -4587 | c.-46 others(17): Show |
ZNF665 | ENSG00000197497.11 | transcript | ENST00000396424.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF665_chr19_53157424_53198358 | 53185354 | TTCGCACT others(4580): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG03654.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0031 a0007c0008t0001g0032 |
2 | 408 | 0.0049 | -4587 | c.-46 others(17): Show |
ZNF665 | ENSG00000197497.11 | transcript | ENST00000396424.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75054235 | TAGCCAAA others(4574): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03942.hp2 NA18953.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0133 |
6 | 322 | 0.0186 | -4581 | c.84+ others(14): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158424602 | AATATACC others(4562): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 264 | 0.0038 | -4569 | c.25+ others(17): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81710703 | TTTCATAT others(4553): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp2 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0155 a0001c0001t0002g0161 a0001c0001t0004g0034 others(8): Show |
11 | 168 | 0.0655 | -4560 | c.250 others(19): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 3/32 | chr12 | TogoVar | |||||||
LEXM_chr1_54801063_54847252 | 54835322 | GCTGGGAC others(4551): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0289 a0004c0008t0001g0290 |
2 | 382 | 0.0052 | -4558 | c.118 others(19): Show |
LEXM | ENSG00000162398.12 | transcript | ENST00000371273.4 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM266_chr15_76054985_76209963 | 76073911 | ATGAGGCC others(4548): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0141 |
2 | 274 | 0.0073 | -4555 | c.-12 others(21): Show |
TMEM266 | ENSG00000169758.13 | transcript | ENST00000388942.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TXLNB_chr6_139235061_139296998 | 139281461 | CTCTTATC others(4543): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0025others(6): Show | a0001c0001t0001a0001c0001t0024a0002c0002t0001others(13): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(61): Show |
71 | 294 | 0.2415 | -4550 | c.424 others(17): Show |
TXLNB | ENSG00000164440.15 | transcript | ENST00000358430.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235589 | CCCCTCTG others(4529): Show |
C | intron_variant | MODIFIER | NA19043.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0045 | a0001c0001t0025g0036 a0001c0003t0045g0057 |
2 | 106 | 0.0189 | -4536 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ZNF317_chr19_9135397_9168413 | 9163878 | AGAGATGG others(4528): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01258.hp2 others(27): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0008t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034 others(17): Show |
30 | 394 | 0.0761 | -4535 | c.*24 others(11): Show |
ZNF317 | ENSG00000130803.15 | transcript | ENST00000247956.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
HSPA1L_chr6_31804619_31820283 | 31815750 | AACCGGCA others(4526): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp2 NA18985.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0002c0002t0001g0001 |
2 | 429 | 0.0047 | -4533 | c.-54 others(10): Show |
HSPA1L | ENSG00000204390.10 | transcript | ENST00000375654.5 | protein_coding | 468 | chr6 | TogoVar | |||||||
TMEM51_chr1_15148747_15225478 | 15160438 | CAATTTTT others(4522): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0293 a0001c0001t0034g0294 |
2 | 298 | 0.0067 | -4529 | c.-26 others(20): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STARD8_chrX_68642666_68730836 | 68678780 | TGCAATAA others(4516): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 199 | 0.0050 | -4523 | c.79+ others(17): Show |
STARD8 | ENSG00000130052.14 | transcript | ENST00000374599.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54286077 | CACCTAAC others(4510): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0136 a0001c0001t0001g0208 a0001c0001t0001g0210 others(3): Show |
6 | 272 | 0.0221 | -4517 | c.405 others(19): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF454_chr5_178936198_178971433 | 178959780 | TATTTTTA others(4508): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0006 | a0001c0001t0001g0042 a0001c0001t0001g0216 a0001c0003t0001g0008 others(19): Show |
35 | 406 | 0.0862 | -4515 | c.251 others(16): Show |
ZNF454 | ENSG00000178187.8 | transcript | ENST00000519564.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF454_chr5_178936198_178971433 | 178959853 | CCTCGGCC others(4507): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 | 1 | 406 | 0.0025 | -4514 | c.251 others(16): Show |
ZNF454 | ENSG00000178187.8 | transcript | ENST00000519564.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17828147 | ACTCACTG others(4504): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0017others(2): Show | a0001c0003t0001a0001c0006t0001a0001c0017t0001others(2): Show | a0001c0003t0001g0006 a0001c0006t0001g0216 a0001c0006t0001g0217 others(4): Show |
8 | 364 | 0.0220 | -4511 | c.637 others(15): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15576040 | TTTTTTTT others(4502): Show |
T | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 291 | 0.0034 | -4509 | c.305 others(16): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220263034 | CACTCTGA others(4501): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18955.hp1 NA18980.hp1 others(5): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0001c0001t0004a0009c0008t0001 | a0001c0001t0001g0064 a0001c0001t0001g0228 a0001c0001t0004g0227 others(5): Show |
8 | 378 | 0.0212 | -4508 | c.115 others(17): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 1/34 | chr1 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149677571 | TAAAATAA others(4490): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 252 | 0.0040 | -4497 | c.565 others(15): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
C2orf74_chr2_61157188_61169828 | 61163476 | CGCCTGTA others(4484): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG03195.hp1 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0015 | 1 | 422 | 0.0024 | -4491 | c.390 others(13): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33359627 | GATCTTGG others(4484): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02148.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0020 a0001c0001t0003g0050 a0001c0001t0005g0024 others(5): Show |
8 | 110 | 0.0727 | -4491 | c.113 others(21): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33359577 | TTTTTGAG others(4475): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0073 | 1 | 110 | 0.0091 | -4482 | c.113 others(21): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199314357 | AGAGAAGC others(4467): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 a0001c0001t0005g0019 |
2 | 254 | 0.0079 | -4474 | c.154 others(19): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15627796 | TGGGTAAA others(4464): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 HG03579.hp1 others(1): Show |
a0001a0017 | a0001c0001a0017c0026 | a0001c0001t0003a0017c0026t0009 | a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 others(1): Show |
4 | 220 | 0.0182 | -4471 | c.139 others(21): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 13/29 | chr10 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103022374 | CCCAGGCA others(4463): Show |
C | exon_loss_variant | HIGH | NA19043.hp2 | a0009 | a0009c0029 | a0009c0029t0004 | a0009c0029t0004g0043 | 1 | 184 | 0.0054 | -4470 | c.781 others(16): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/67 | chr1 | TogoVar | |||||||
GRIK2_chr6_101388708_102075083 | 101486683 | ATCAATAA others(4460): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02559.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0082 a0001c0001t0002g0014 a0001c0001t0002g0090 others(9): Show |
12 | 116 | 0.1035 | -4467 | c.115 others(19): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 2/16 | chr6 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32734721 | GTGCCTCT others(4460): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 184 | 0.0054 | -4467 | c.711 others(21): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
PDE6D_chr2_231727433_231786282 | 231752918 | TCGCCTCC others(4457): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 266 | 0.0038 | -4464 | c.51- others(17): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
FBXL13_chr7_102806189_103079796 | 102957489 | ACTAAAAC others(4444): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0130 a0001c0002t0003g0133 |
2 | 328 | 0.0061 | -4451 | c.994 others(17): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 9/20 | chr7 | TogoVar | |||||||
TMLHE_chrX_155484011_155617952 | 155548459 | GGCACGGT others(4439): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0041 others(2): Show |
5 | 216 | 0.0232 | -4446 | c.-1- others(15): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 28904815 | ATGGCATT others(4429): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 NA19240.hp1 |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0004 | a0001c0001t0010a0006c0006t0009a0007c0004t0001 | a0001c0001t0010g0090 a0006c0006t0009g0089 a0007c0004t0001g0088 |
3 | 92 | 0.0326 | -4436 | c.-24 others(21): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |