regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUFU_chr10_102498972_102638535 | 102632761 | C | CTGGTGCT others(34): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0037 | 1 | 268 | 0.0037 | 41 | c.*26 others(52): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 12/12 | 2650 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
SUFU_chr10_102498972_102638535 | 102637258 | A | ATATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 268 | 0.0037 | 41 | c.*71 others(52): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3724 | chr10 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69616068 | A | ATGTGTGT others(34): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0016 | a0001c0001t0002g0188a0001c0003t0016g0082 | 2 | 296 | 0.0068 | 41 | c.137 others(60): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SUMF1_chr3_4356146_4472269 | 4470098 | G | GGAAAGGA others(34): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 NA19012.hp1 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0327a0001c0001t0002g0366a0001c0001t0004g0328 | 3 | 392 | 0.0077 | 41 | c.-28 others(52): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 2830 | chr3 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4470109 | G | GAGAAAGG others(34): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 392 | 0.0026 | 41 | c.-28 others(52): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 2841 | chr3 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 33001519 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18977.hp1 NA18998.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0151a0001c0001t0001g0192a0002c0002t0001g0058 | 3 | 382 | 0.0079 | 41 | c.212 others(56): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 422 | 0.0024 | 41 | c.-14 others(52): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAATAA others(34): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0163 | 1 | 262 | 0.0038 | 41 | c.912 others(58): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(34): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18945.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191a0001c0001t0002g0192a0001c0001t0002g0193 | 3 | 236 | 0.0127 | 41 | c.-32 others(58): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SV2B_chr15_91095257_91307565 | 91125781 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 | 1 | 214 | 0.0047 | 41 | c.-39 others(62): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SV2B_chr15_91095257_91307565 | 91137598 | T | TATATTTC others(34): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0012a0001c0007t0002 | a0001c0001t0012g0184a0001c0007t0002g0040a0001c0007t0002g0185 | 3 | 214 | 0.0140 | 41 | c.-39 others(62): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SVEP1_chr9_110360248_110584741 | 110434666 | T | TAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0058 | a0058c0044 | a0058c0044t0001 | a0058c0044t0001g0267 | 1 | 362 | 0.0028 | 41 | c.488 others(58): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 29/47 | chr9 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108903322 | G | GAAGGAAG others(34): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0051 | a0001c0001t0009g0251a0001c0001t0009g0252a0001c0001t0009g0255others(4): Show | 7 | 288 | 0.0243 | 41 | c.*92 others(52): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4418 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 426 | 0.0024 | 41 | c.236 others(56): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18956.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 426 | 0.0047 | 41 | c.236 others(56): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18988.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 426 | 0.0070 | 41 | c.236 others(56): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32503824 | A | ACAATCGC others(34): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 184 | 0.0054 | 41 | c.*98 others(52): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3995 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32572243 | C | CTCCTTCC others(34): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(7): Show | a0001c0001t0001g0011a0001c0001t0002g0037a0001c0001t0002g0072others(10): Show | 13 | 184 | 0.0707 | 41 | c.774 others(60): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32572243 | C | CTCCTTCC others(34): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0007g0082a0001c0001t0008g0134a0001c0001t0011g0109others(6): Show | 9 | 184 | 0.0489 | 41 | c.774 others(60): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32572243 | C | CTCCTTCC others(34): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0004a0002c0002t0023 | a0001c0001t0018g0146a0002c0002t0004g0140a0002c0002t0023g0164 | 3 | 184 | 0.0163 | 41 | c.774 others(60): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0004 | a0004c0004t0018 | a0004c0004t0018g0187 | 1 | 420 | 0.0024 | 41 | c.-64 others(50): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0022 | 1 | 420 | 0.0024 | 41 | c.-64 others(50): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18997.hp1 |
a0003a0013 | a0003c0003a0013c0013 | a0003c0003t0003a0013c0013t0006 | a0003c0003t0003g0003a0013c0013t0006g0071 | 2 | 420 | 0.0048 | 41 | c.-64 others(50): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0004 | a0004c0038 | a0004c0038t0005 | a0004c0038t0005g0022 | 1 | 420 | 0.0024 | 41 | c.-64 others(50): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(34): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 246 | 0.0041 | 41 | c.85- others(58): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79179325 | T | TAGATATA others(34): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0014 | a0001c0003t0002g0005a0001c0003t0014g0056 | 2 | 62 | 0.0323 | 41 | c.-17 others(60): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158701247 | A | AAGGACTG others(34): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02572.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0145a0001c0001t0001g0218a0001c0001t0001g0223others(11): Show | 14 | 292 | 0.0480 | 41 | c.395 others(58): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158701273 | A | AAGGACTG others(34): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0049a0003c0004t0001g0132 | 2 | 292 | 0.0069 | 41 | c.395 others(58): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TACR1_chr2_75041463_75204520 | 75094859 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 282 | 0.0036 | 41 | c.584 others(60): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7901011 | G | GTGAATCT others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(330): Show | 333 | 344 | 0.9680 | 41 | c.410 others(60): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TAF4_chr20_61969798_62070881 | 61978413 | C | CACCACCA others(34): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 314 | 0.0032 | 41 | c.309 others(60): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48507198 | C | CCAAGGGC others(34): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0030a0001c0001t0007g0031others(3): Show | 6 | 258 | 0.0233 | 41 | c.112 others(60): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAOK1_chr17_29385363_29556903 | 29468135 | A | ATTTTTTT others(34): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0220 | 1 | 326 | 0.0031 | 41 | c.204 others(56): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TAP2_chr6_32820415_32843739 | 32825237 | G | GCTATAAA others(34): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003 | 1 | 485 | 0.0021 | 41 | c.*36 others(52): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 177 | chr6 | TogoVar | ||||||
TBC1D14_chr4_6904826_7038114 | 6933276 | C | CCCCTCCC others(34): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0014 | 1 | 304 | 0.0033 | 41 | c.722 others(58): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBC1D14_chr4_6904826_7038114 | 6977077 | C | CTCCTCTC others(34): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 304 | 0.0033 | 41 | c.843 others(58): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBC1D16_chr17_79927343_80040872 | 79929965 | T | TCTCCTCC others(34): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0004 | a0001c0004t0071 | a0001c0004t0071g0227 | 1 | 334 | 0.0030 | 41 | c.*10 others(54): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2377 | chr17 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CTCTCCCC others(34): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0011 | a0003c0011t0015 | a0003c0011t0015g0204 | 1 | 334 | 0.0030 | 41 | c.*10 others(54): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CTCTCCCC others(34): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0066 | 1 | 334 | 0.0030 | 41 | c.*10 others(54): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar | ||||||
TBC1D16_chr17_79927343_80040872 | 79929987 | T | TCCCCTCC others(34): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 | 1 | 334 | 0.0030 | 41 | c.*10 others(54): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2355 | chr17 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26582102 | T | TGAATGTC others(34): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 310 | 0.0032 | 41 | c.-20 others(52): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 1981 | chr4 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46941719 | C | CGCGGATT others(34): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0046others(10): Show | 13 | 112 | 0.1161 | 41 | c.101 others(62): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46941719 | C | CGGAATAT others(34): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0029a0001c0001t0004g0021a0001c0001t0005g0002others(7): Show | 10 | 112 | 0.0893 | 41 | c.101 others(62): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D2B_chr15_77989985_78082711 | 77992825 | C | CCCCCCCA others(34): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0204 | 1 | 280 | 0.0036 | 41 | c.*53 others(52): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2159 | chr15 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 77992835 | T | TCCCCCCC others(34): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0228 | 1 | 280 | 0.0036 | 41 | c.*53 others(52): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2149 | chr15 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 77992871 | T | TCCCCCCC others(34): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0170 | 1 | 280 | 0.0036 | 41 | c.*52 others(52): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2113 | chr15 | TogoVar | ||||||
TBC1D32_chr6_121074494_121339480 | 121192051 | T | TCTTTATA others(34): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02132.hp1 NA18747.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002a0003c0004t0003g0018a0003c0004t0003g0019others(3): Show | 6 | 292 | 0.0206 | 41 | c.257 others(62): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 22/31 | chr6 | TogoVar | ||||||
TBCA_chr5_77686166_77781339 | 77768469 | T | TAACTATT others(34): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 354 | 0.0028 | 41 | c.53+ others(56): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82886635 | T | TCTCCCCT others(34): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 318 | 0.0031 | 41 | c.153 others(60): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82886668 | C | CTATTTGT others(34): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0020 | a0020c0042 | a0020c0042t0044 | a0020c0042t0044g0137 | 1 | 318 | 0.0031 | 41 | c.153 others(60): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | chr17 | TogoVar |