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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSC22D1_chr13_44427143_44581330 | 44494375 | C | CAAAAAA | intron_variant | MODIFIER | HG03471.hp1 HG04199.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0160 a0001c0001t0001g0171 others(2): Show |
5 | 29 | 0.1724 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44511619 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 86 | 0.0233 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517333 | A | AACACAC | intron_variant | MODIFIER | HG00733.hp1 HG02148.hp1 NA18953.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0007 | a0001c0001t0002g0122 a0001c0001t0002g0145 a0003c0004t0007g0227 |
3 | 133 | 0.0226 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517819 | G | GTGTGTA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(73): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(73): Show |
76 | 238 | 0.3193 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517829 | G | GTATATA | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp1 HG02004.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0002 | a0001c0001t0001g0106 a0001c0001t0002g0102 a0001c0001t0002g0105 others(9): Show |
12 | 168 | 0.0714 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44517857 | A | ATATATT | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 others(2): Show |
5 | 98 | 0.0510 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44546749 | C | CGTGTGT | intron_variant | MODIFIER | HG01496.hp1 HG01975.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0006 | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0048 others(6): Show |
9 | 10 | 0.9000 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551310 | G | GGTGTGT | intron_variant | MODIFIER | HG01928.hp2 HG01943.hp2 HG02004.hp2 others(2): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0216 a0004c0003t0003g0218 a0004c0003t0003g0219 others(2): Show |
5 | 116 | 0.0431 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44551389 | G | GGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0002g0115 others(6): Show |
9 | 92 | 0.0978 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107734878 | T | TAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0063 a0001c0001t0001g0139 others(7): Show |
10 | 68 | 0.1471 | 6 | c.321 others(25): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107769715 | T | TCACACA | intron_variant | MODIFIER | HG02486.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 148 | 0.0135 | 6 | c.320 others(23): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
TSC22D3_chrX_107708221_107780787 | 107779738 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02630.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
9 | 15 | 0.6000 | 6 | c.-43 others(17): Show |
TSC22D3 | ENSG00000157514.18 | transcript | ENST00000372383.9 | protein_coding | 3952 | chrX | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGAGT | intron_variant | MODIFIER | HG01346.hp1 HG02056.hp1 HG02572.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
11 | 99 | 0.1111 | 6 | c.-26 others(21): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGAGTGT | intron_variant | MODIFIER | HG01070.hp2 HG01358.hp2 HG01361.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(4): Show |
16 | 104 | 0.1538 | 6 | c.-26 others(21): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC22D4_chr7_100461519_100484214 | 100478350 | A | AGTGTGT | intron_variant | MODIFIER | HG00597.hp2 HG01928.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(2): Show |
8 | 96 | 0.0833 | 6 | c.-26 others(21): Show |
TSC22D4 | ENSG00000166925.9 | transcript | ENST00000300181.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2064696 | C | CCTGGGG | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0008a0001c0048a0001c0049 | a0001c0008t0009a0001c0048t0001a0001c0049t0001 | a0001c0008t0009g0030 a0001c0008t0009g0031 a0001c0008t0009g0034 others(3): Show |
6 | 316 | 0.0190 | 6 | c.159 others(23): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2088881 | G | GCGCACA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01074.hp1 others(34): Show |
a0001a0003a0015 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0002t0002g0007 others(33): Show |
37 | 234 | 0.1581 | 6 | c.*27 others(15): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 42/42 | 273 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TSEN2_chr3_12479480_12538658 | 12481924 | T | TGTCTGC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0062 others(18): Show |
23 | 205 | 0.1122 | 6 | c.-29 others(17): Show |
TSEN2 | ENSG00000154743.19 | transcript | ENST00000284995.11 | protein_coding | 2555 | chr3 | TogoVar | |||||||
TSEN34_chr19_54186308_54199532 | 54193005 | C | CAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0009others(2): Show | a0001c0001t0006g0025 a0001c0002t0001g0008 a0001c0002t0009g0008 others(2): Show |
8 | 174 | 0.0460 | 6 | c.746 others(21): Show |
TSEN34 | ENSG00000170892.13 | transcript | ENST00000396388.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TSEN34_chr19_54186308_54199532 | 54196411 | C | CTTATTA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0005a0003c0005t0002 | a0001c0001t0002g0002 a0001c0001t0002g0032 a0001c0001t0005g0005 others(1): Show |
7 | 423 | 0.0165 | 6 | c.*30 others(17): Show |
TSEN34 | ENSG00000170892.13 | transcript | ENST00000396388.3 | protein_coding | 1880 | chr19 | TogoVar | |||||||
TSEN54_chr17_75511528_75529735 | 75516562 | T | TGGAGCC | disruptive_inframe_insertion | MODERATE | HG00733.hp1 HG00735.hp2 HG01106.hp1 others(18): Show |
a0005 | a0005c0008a0005c0011a0005c0013 | a0005c0008t0001a0005c0011t0001a0005c0013t0001 | a0005c0008t0001g0003 a0005c0008t0001g0053 a0005c0008t0001g0055 others(5): Show |
21 | 422 | 0.0498 | 6 | c.3_8 others(9): Show |
p.Pro others(15): Show |
TSEN54 | ENSG00000182173.14 | transcript | ENST00000333213.11 | protein_coding | 1/11 | 42/1937 | 9/1581 | 3/526 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TSEN54_chr17_75511528_75529735 | 75522826 | A | ATAAATC | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(56): Show |
a0002a0004a0005others(3): Show | a0002c0012a0004c0004a0005c0008others(5): Show | a0002c0012t0001a0004c0004t0001a0004c0004t0003others(6): Show | a0002c0012t0001g0052 a0004c0004t0001g0005 a0004c0004t0001g0023 others(18): Show |
59 | 422 | 0.1398 | 6 | c.125 others(23): Show |
TSEN54 | ENSG00000182173.14 | transcript | ENST00000333213.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TSFM_chr12_57777787_57802587 | 57795072 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp2 HG02083.hp2 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0070 |
3 | 229 | 0.0131 | 6 | c.572 others(23): Show |
TSFM | ENSG00000123297.20 | transcript | ENST00000652027.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSG101_chr11_18475311_18531942 | 18512723 | A | ATTTTTT | intron_variant | MODIFIER | HG02148.hp1 HG02602.hp2 HG02738.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0223 a0001c0001t0002g0220 a0001c0002t0001g0105 others(9): Show |
12 | 150 | 0.0800 | 6 | c.357 others(23): Show |
TSG101 | ENSG00000074319.13 | transcript | ENST00000251968.4 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
TSGA10IP_chr11_65940480_65964966 | 65951518 | T | TTTATTA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00673.hp2 others(89): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0094 others(45): Show |
92 | 101 | 0.9109 | 6 | c.115 others(25): Show |
TSGA10IP | ENSG00000175513.10 | transcript | ENST00000532620.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSGA10IP_chr11_65940480_65964966 | 65961205 | A | AAAAAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(113): Show |
a0001a0013a0014others(1): Show | a0001c0001a0013c0020a0014c0021others(1): Show | a0001c0001t0001a0013c0020t0001a0014c0021t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show |
116 | 259 | 0.4479 | 6 | c.*12 others(17): Show |
TSGA10IP | ENSG00000175513.10 | transcript | ENST00000532620.6 | protein_coding | 1240 | chr11 | TogoVar | |||||||
TSGA10_chr2_98992261_99159942 | 99074351 | C | CGTGTGT | intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0004g0005 others(9): Show |
12 | 137 | 0.0876 | 6 | c.883 others(23): Show |
TSGA10 | ENSG00000135951.16 | transcript | ENST00000393483.8 | protein_coding | 12/20 | chr2 | TogoVar | |||||||
TSGA10_chr2_98992261_99159942 | 99144649 | C | CAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG02135.hp1 HG02630.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0009a0001c0007t0003 | a0001c0001t0003g0147 a0001c0001t0003g0160 a0001c0001t0003g0161 others(11): Show |
14 | 120 | 0.1167 | 6 | c.-62 others(27): Show |
TSGA10 | ENSG00000135951.16 | transcript | ENST00000393483.8 | protein_coding | 1/20 | chr2 | TogoVar | |||||||
TSGA13_chr7_130663643_130691545 | 130686693 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0119 others(1): Show |
7 | 69 | 0.1014 | 6 | c.-58 others(15): Show |
TSGA13 | ENSG00000213265.9 | transcript | ENST00000356588.8 | protein_coding | 149 | chr7 | TogoVar | |||||||
TSGA13_chr7_130663643_130691545 | 130686867 | T | TCTTCTC | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG01978.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0032 others(5): Show |
17 | 384 | 0.0443 | 6 | c.-76 others(15): Show |
TSGA13 | ENSG00000213265.9 | transcript | ENST00000356588.8 | protein_coding | 323 | chr7 | TogoVar | |||||||
TSGA13_chr7_130663643_130691545 | 130690450 | C | CTTTCCT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01496.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show |
17 | 321 | 0.0530 | 6 | c.-43 others(17): Show |
TSGA13 | ENSG00000213265.9 | transcript | ENST00000356588.8 | protein_coding | 3906 | chr7 | TogoVar | |||||||
TSGA13_chr7_130663643_130691545 | 130690454 | C | CTTTCCT | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02080.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show |
4 | 332 | 0.0120 | 6 | c.-43 others(17): Show |
TSGA13 | ENSG00000213265.9 | transcript | ENST00000356588.8 | protein_coding | 3910 | chr7 | TogoVar | |||||||
TSHB_chr1_115024826_115039302 | 115026279 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0046 |
22 | 44 | 0.5000 | 6 | c.-35 others(17): Show |
TSHB | ENSG00000134200.4 | transcript | ENST00000256592.3 | protein_coding | 3546 | chr1 | TogoVar | |||||||
TSHR_chr14_80950621_81151306 | 80978094 | A | AACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0004others(1): Show | a0001c0001t0002g0208 a0001c0001t0004g0190 a0001c0001t0004g0238 others(3): Show |
6 | 24 | 0.2500 | 6 | c.170 others(25): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81037934 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02602.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0189 a0001c0001t0003g0074 others(13): Show |
16 | 213 | 0.0751 | 6 | c.171 others(25): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81067483 | T | TTATATA | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01981.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0188 others(40): Show |
43 | 52 | 0.8269 | 6 | c.243 others(21): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81067927 | C | CTATATA | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02129.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0002g0206 others(9): Show |
12 | 53 | 0.2264 | 6 | c.243 others(21): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81094679 | A | ATTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03098.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0007 | a0001c0002t0005a0001c0002t0008a0001c0002t0009others(2): Show | a0001c0002t0005g0252 a0001c0002t0008g0005 a0001c0002t0008g0253 others(4): Show |
7 | 8 | 0.8750 | 6 | c.546 others(23): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHR_chr14_80950621_81151306 | 81096923 | G | GGTGTGT | intron_variant | MODIFIER | HG02886.hp2 HG03471.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0144 a0001c0001t0002g0198 a0001c0002t0005g0121 others(1): Show |
4 | 61 | 0.0656 | 6 | c.614 others(21): Show |
TSHR | ENSG00000165409.18 | transcript | ENST00000298171.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53001205 | C | CGTGTGT | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0004g0113 a0001c0001t0005g0158 a0001c0001t0007g0060 others(5): Show |
8 | 92 | 0.0870 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53001230 | G | GTGTGTA | intron_variant | MODIFIER | HG02257.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0008 | a0001c0001t0001g0093 a0001c0012t0008g0096 |
2 | 153 | 0.0131 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53003255 | G | GGTGTGT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01168.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(20): Show | a0001c0001t0001g0105 a0001c0001t0005g0158 a0001c0001t0009g0124 others(22): Show |
25 | 45 | 0.5556 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53008980 | C | CCTCTCT | intron_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03471.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0043a0001c0002t0086a0002c0003t0017others(1): Show | a0001c0001t0043g0169 a0001c0002t0086g0112 a0002c0003t0017g0150 others(1): Show |
4 | 27 | 0.1481 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53036678 | A | ATAATAT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0093 others(132): Show |
135 | 174 | 0.7759 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53051453 | G | GCACACA | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0003g0054 a0001c0001t0004g0070 a0001c0001t0012g0111 others(4): Show |
7 | 169 | 0.0414 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53051457 | G | GCACACA | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01109.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0035 a0001c0001t0001g0105 a0001c0001t0002g0117 others(8): Show |
11 | 35 | 0.3143 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53064689 | A | AACACAC | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0001g0148 others(51): Show |
54 | 104 | 0.5192 | 6 | c.40+ others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53096922 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0062others(5): Show | a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0011g0100 others(6): Show |
9 | 174 | 0.0517 | 6 | c.40+ others(25): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53135007 | G | GACACAC | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01099.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 others(44): Show |
47 | 53 | 0.8868 | 6 | c.41- others(25): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53163360 | C | CTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG02109.hp1 HG02257.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0055 a0001c0001t0001g0160 a0001c0001t0002g0117 others(17): Show |
20 | 45 | 0.4444 | 6 | c.41- others(23): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |