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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D2_chr9_98194011_98260649 | 98214277 | GAAATGAA others(134): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0022 | a0022c0033 | a0022c0033t0001 | a0022c0033t0001g0253 | 1 | 366 | 0.0027 | -141 | c.137 others(19): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 6/12 | chr9 | TogoVar | |||||||
TBC1D9B_chr5_179857071_179912897 | 179871746 | TCCAGGAT others(134): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 362 | 0.0028 | -141 | c.241 others(17): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 14/20 | chr5 | TogoVar | |||||||
TBC1D9B_chr5_179857071_179912897 | 179871852 | TTGGGGGA others(134): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0016a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(167): Show |
210 | 362 | 0.5801 | -141 | c.241 others(17): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 14/20 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 365561 | GCTCTTAC others(134): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(16): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0004a0005c0005others(3): Show | a0001c0001t0001a0003c0004t0004a0005c0005t0004others(6): Show | a0001c0001t0001g0161 a0003c0004t0004g0345 a0005c0005t0004g0013 others(15): Show |
19 | 370 | 0.0514 | -141 | c.913 others(17): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 136890376 | CCTCTTCC others(134): Show |
C | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0077 | 1 | 98 | 0.0102 | -141 | c.139 others(17): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334808 | GGTAGGAG others(134): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 370 | 0.0027 | -141 | c.-2+ others(15): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334846 | TAGGAGAA others(134): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 370 | 0.0027 | -141 | c.-2+ others(15): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334949 | TGTAGGAG others(134): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01256.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(16): Show |
25 | 370 | 0.0676 | -141 | c.-2+ others(15): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196335005 | ACTGGGAG others(134): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01433.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 a0002c0002t0001g0071 |
5 | 370 | 0.0135 | -141 | c.-2+ others(15): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129087852 | CCCGGGGT others(134): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0004a0001c0006t0002a0001c0007t0004others(1): Show | a0001c0002t0004g0077 a0001c0006t0002g0041 a0001c0006t0002g0076 others(2): Show |
5 | 94 | 0.0532 | -141 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1294762 | CGTGGCTC others(134): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0002a0001c0010t0030 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 others(6): Show |
10 | 348 | 0.0287 | -141 | c.183 others(15): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
TOP1MT_chr8_143304324_143339880 | 143307968 | AGGGCGGC others(134): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 430 | 0.0023 | -141 | c.*13 others(11): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 1355 | chr8 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153244236 | CTTCTCCT others(134): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02280.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0018 others(21): Show |
24 | 268 | 0.0896 | -141 | c.31- others(17): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188151686 | GGGGTTGA others(134): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 228 | 0.0044 | -141 | c.*43 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 3944 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188151972 | GGGGGTGA others(134): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 228 | 0.0044 | -141 | c.*46 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4230 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188151996 | GGGGTTGA others(134): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 NA18990.hp1 NA18997.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0036 others(2): Show |
5 | 228 | 0.0219 | -141 | c.*46 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4254 | chr4 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142255614 | TCACCATC others(134): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0024 others(43): Show |
47 | 238 | 0.1975 | -141 | c.144 others(21): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44504515 | GGGAGGAG others(134): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0214 | 1 | 294 | 0.0034 | -141 | c.185 others(17): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44646960 | TGCTGCCA others(134): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0098 | 1 | 294 | 0.0034 | -141 | c.82+ others(17): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54414148 | CCACCATC others(134): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03041.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0007g0300 |
3 | 329 | 0.0091 | -141 | c.-14 others(11): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1315 | chr19 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292204 | CCCCATGT others(134): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0050 | 1 | 284 | 0.0035 | -141 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238907877 | CACCACAC others(134): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 338 | 0.0030 | -141 | c.*36 others(17): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42131510 | GAGGAGGG others(134): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(9): Show |
a0014a0017a0049others(2): Show | a0014c0009a0017c0155a0017c0200others(3): Show | a0014c0009t0008a0017c0155t0009a0017c0200t0028others(3): Show | a0014c0009t0008g0003 a0014c0009t0008g0117 a0014c0009t0008g0142 others(8): Show |
12 | 400 | 0.0300 | -141 | c.377 others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZFP2_chr5_178890913_178938212 | 178900290 | TCACCCCA others(134): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 392 | 0.0026 | -141 | c.-45 others(19): Show |
ZFP2 | ENSG00000198939.8 | transcript | ENST00000361362.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF253_chr19_19860882_19899674 | 19885253 | TTCTTTCT others(134): Show |
T | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0236 | 1 | 370 | 0.0027 | -141 | c.226 others(17): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF71_chr19_56590302_56629486 | 56609617 | CATAAATG others(134): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02145.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0023others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0003g0116 others(16): Show |
22 | 432 | 0.0509 | -141 | c.34- others(15): Show |
ZNF71 | ENSG00000197951.10 | transcript | ENST00000599599.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF723_chr19_22827291_22863667 | 22862490 | TATGTAAT others(134): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0049 |
2 | 364 | 0.0055 | -141 | c.*40 others(11): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3824 | chr19 | TogoVar | |||||||
ACE_chr17_63472061_63503373 | 63501225 | TCCTCATC others(133): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(58): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0004a0001c0005others(20): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(25): Show | a0001c0002t0002g0032 a0001c0004t0001g0107 a0001c0004t0002g0106 others(39): Show |
61 | 374 | 0.1631 | -140 | c.*38 others(11): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 2853 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75958406 | AGCCTGTA others(133): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0080 |
3 | 344 | 0.0087 | -140 | c.431 others(15): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 3/13 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100102337 | CGAAGGGG others(133): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 NA20129.hp2 others(2): Show |
a0001a0002a0003 | a0001c0007a0001c0014a0002c0001others(2): Show | a0001c0007t0023a0001c0014t0007a0002c0001t0024others(2): Show | a0001c0007t0023g0215 a0001c0014t0007g0105 a0002c0001t0024g0175 others(2): Show |
5 | 228 | 0.0219 | -140 | c.201 others(19): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 14/21 | chr15 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45134095 | TGGTGTGT others(133): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0048 | 1 | 350 | 0.0029 | -140 | c.-48 others(17): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322501 | TATAAATA others(133): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01106.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0055 others(18): Show |
21 | 236 | 0.0890 | -140 | c.126 others(21): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32454689 | CTCCCTCC others(133): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03516.hp1 NA19240.hp1 |
a0001a0005a0019 | a0001c0019a0005c0011a0019c0039 | a0001c0019t0001a0005c0011t0013a0019c0039t0023 | a0001c0019t0001g0143 a0005c0011t0013g0051 a0019c0039t0023g0142 |
3 | 154 | 0.0195 | -140 | c.324 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400222 | CGTATATA others(133): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0333 a0001c0001t0010g0334 |
2 | 388 | 0.0052 | -140 | c.168 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112444001 | TAAACTTA others(133): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 306 | 0.0033 | -140 | c.*27 others(11): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1381 | chr4 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95947573 | TGGGGGGT others(133): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0063 | 1 | 404 | 0.0025 | -140 | c.137 others(17): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4191894 | CTAATCTG others(133): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0186 | 1 | 300 | 0.0033 | -140 | c.137 others(19): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 10/24 | chr17 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 421380 | ACACACAC others(133): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0013others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(253): Show |
267 | 286 | 0.9336 | -140 | c.133 others(17): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 15/22 | chr11 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7367773 | ACACATAT others(133): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0023 | a0001c0001a0023c0041 | a0001c0001t0005a0001c0001t0034a0023c0041t0002 | a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0295 others(3): Show |
6 | 298 | 0.0201 | -140 | c.15+ others(15): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 2/28 | chr19 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219435 | TATATATA others(133): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02738.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0075 |
3 | 410 | 0.0073 | -140 | c.670 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149634 | TATAGTAA others(133): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(28): Show |
31 | 112 | 0.2768 | -140 | c.283 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804103 | CCCCTCCT others(133): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01517.hp2 HG02809.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0010a0001c0002t0014a0003c0008t0008 | a0001c0001t0010g0002 a0001c0002t0014g0197 a0003c0008t0008g0245 |
3 | 254 | 0.0118 | -140 | c.163 others(15): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134375740 | GACATGTG others(133): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0062 others(93): Show |
99 | 352 | 0.2813 | -140 | c.*48 others(11): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 2767 | chr11 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72735139 | GAAAATGC others(133): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00558.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0032 | 1 | 398 | 0.0025 | -140 | c.106 others(12): Show |
p.Glu others(5): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 13/16 | 1085/2467 | 1064/1560 | 355/519 | chr15 | TogoVar | |||
C7orf50_chr7_992006_1143247 | 1127839 | AATCTCGG others(133): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0042 |
3 | 326 | 0.0092 | -140 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127945 | CCACCCTG others(133): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0315 | 1 | 326 | 0.0031 | -140 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129369 | CATCTCGG others(133): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0001 | 1 | 326 | 0.0031 | -140 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318483 | AGGGAAAG others(133): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 a0001c0001t0006g0132 a0001c0001t0006g0280 |
3 | 324 | 0.0093 | -140 | c.835 others(17): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85175909 | ATGTCCTA others(133): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0096 | 1 | 146 | 0.0069 | -140 | c.61+ others(19): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004813 | AGGGGAGT others(133): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG02074.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0003t0002 | a0001c0002t0002g0012 a0001c0002t0006g0227 a0001c0003t0002g0007 others(3): Show |
14 | 394 | 0.0355 | -140 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar |