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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU2F3_chr11_120235140_120324945 | 120267745 | A | AAAAAAAA others(601): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0004a0005c0005t0001 | a0003c0003t0004g0060 a0005c0005t0001g0079 |
2 | 64 | 0.0313 | 608 | c.98- others(623): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPM1E_chr17_58750854_58990179 | 58905024 | C | CAAAAAAC others(601): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0127 a0001c0004t0012g0128 |
2 | 309 | 0.0065 | 608 | c.465 others(627): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494118 | G | GGACCTCG others(601): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 126 | 0.0079 | 608 | c.126 others(627): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504418 | C | CCTCACCT others(601): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 87 | 0.0115 | 608 | c.139 others(627): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(601): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0259 | 1 | 187 | 0.0053 | 608 | c.-50 others(619): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(601): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 121 | 0.0083 | 608 | c.59- others(625): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(601): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 121 | 0.0083 | 608 | c.59- others(625): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(601): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0075 | 1 | 8 | 0.1250 | 608 | c.937 others(625): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(601): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0292 | 1 | 8 | 0.1250 | 608 | c.937 others(625): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(601): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0133 a0001c0010t0001g0140 |
2 | 9 | 0.2222 | 608 | c.937 others(625): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(601): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(62): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0017others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0006others(1): Show | a0001c0004t0001g0001 a0001c0004t0001g0015 a0001c0004t0001g0016 others(52): Show |
65 | 72 | 0.9028 | 608 | c.937 others(625): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(601): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 40 | 0.0250 | 608 | c.77- others(625): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(601): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 45 | 0.0222 | 608 | c.22+ others(625): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272527 | C | CTAAAGAC others(601): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 180 | 0.0056 | 608 | c.331 others(625): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281123 | G | GGATGCCC others(601): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 287 | 0.0035 | 608 | c.970 others(627): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(601): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0102 | 1 | 20 | 0.0500 | 608 | c.206 others(627): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(601): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 208 | 0.0048 | 608 | c.115 others(625): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(601): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 315 | 0.0032 | 608 | c.115 others(625): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(601): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0264 | 1 | 110 | 0.0091 | 608 | c.115 others(625): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(601): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 110 | 0.0091 | 608 | c.115 others(625): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGAGAAGG others(601): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 295 | 0.0034 | 608 | c.115 others(625): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246024354 | G | GAAGTGGA others(601): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 82 | 0.0122 | 608 | c.532 others(627): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246024354 | G | GAAGTGGA others(601): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(65): Show |
68 | 149 | 0.4564 | 608 | c.532 others(627): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(601): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 359 | 0.0084 | 608 | c.*36 others(619): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(601): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 359 | 0.0084 | 608 | c.*36 others(619): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | |||||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(601): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0072 | 1 | 221 | 0.0045 | 608 | c.175 others(623): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(601): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03017.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0003t0001g0078 others(1): Show |
4 | 224 | 0.0179 | 608 | c.175 others(623): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(601): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(3): Show |
a0005 | a0005c0007a0005c0022 | a0005c0007t0003a0005c0022t0003 | a0005c0007t0003g0205 a0005c0007t0003g0234 a0005c0007t0003g0235 others(3): Show |
6 | 226 | 0.0265 | 608 | c.175 others(623): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47670706 | T | TGGGGGGG others(601): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0073 | 1 | 361 | 0.0028 | 608 | c.157 others(627): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(601): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0185 | 1 | 4 | 0.2500 | 608 | c.157 others(627): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0192 | 1 | 57 | 0.0175 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0066 others(31): Show |
34 | 90 | 0.3778 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00673.hp2 others(40): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0069 others(40): Show |
43 | 99 | 0.4343 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0034 | 1 | 57 | 0.0175 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 57 | 0.0175 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0157 a0001c0001t0002g0191 a0001c0001t0020g0032 others(1): Show |
4 | 60 | 0.0667 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(601): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0029others(1): Show | a0001c0001t0002g0164 a0001c0001t0002g0195 a0001c0001t0013g0163 others(2): Show |
5 | 61 | 0.0820 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(601): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 28 | 0.0357 | 608 | c.113 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48736325 | T | TAGAGTCC others(601): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0195 |
2 | 196 | 0.0102 | 608 | c.391 others(627): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(601): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0106 | 1 | 158 | 0.0063 | 608 | c.924 others(625): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747889 | T | TGGGAGGC others(601): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 173 | 0.0058 | 608 | c.189 others(623): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747951 | T | TGGGAGGC others(601): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0111 | 1 | 267 | 0.0037 | 608 | c.189 others(623): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747993 | T | TGGGAGGC others(601): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0223 a0002c0002t0008g0292 |
2 | 217 | 0.0092 | 608 | c.189 others(623): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM87B_chr2_112050269_112124314 | 112114433 | C | CGTAGCAT others(601): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0175 | 1 | 243 | 0.0041 | 608 | c.160 others(627): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1294739 | C | CCCTGCAT others(601): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02559.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0019g0219 |
3 | 319 | 0.0094 | 608 | c.183 others(623): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(601): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 87 | 0.0115 | 608 | c.41- others(625): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028765 | C | CCTCGTAA others(601): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0114 | 1 | 153 | 0.0065 | 608 | c.225 others(627): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(601): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 4 | 53 | 0.0755 | 608 | c.*24 others(619): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(601): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 50 | 0.0200 | 608 | c.*24 others(619): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870123 | C | CCCCCACA others(601): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 331 | 0.0030 | 608 | c.*35 others(627): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |