| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDCD6_chr5_266646_319974 | 293374 | A | ATGTCAGA others(623): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 360 | 0.0028 | 630 | c.164 others(649): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 416 | 0.0024 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(55): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0004a0012c0014others(1): Show | a0001c0001t0001a0001c0001t0032a0003c0004t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0016others(31): Show | 58 | 416 | 0.1394 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18991.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 416 | 0.0072 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0004 | a0003c0004t0039 | a0003c0004t0039g0156 | 1 | 416 | 0.0024 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(104): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0010a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0145others(62): Show | 107 | 416 | 0.2572 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13650339 | G | GAGAGGAA others(623): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(73): Show |
a0001a0008 | a0001c0003a0008c0009 | a0001c0003t0001a0001c0003t0003a0001c0003t0017others(13): Show | a0001c0003t0001g0001a0001c0003t0003g0001a0001c0003t0003g0019others(40): Show | 76 | 416 | 0.1827 | 630 | c.*87 others(641): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 4517 | chr21 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(623): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 210 | 0.0048 | 630 | c.387 others(649): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 24109273 | C | CGGGGCGG others(623): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0114 | 1 | 148 | 0.0068 | 630 | c.822 others(647): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | chr16 | TogoVar | ||||||
| PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(623): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02615.hp1 HG02895.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0017others(9): Show | a0001c0001t0011g0112a0001c0001t0014g0137a0001c0001t0017g0082others(9): Show | 12 | 148 | 0.0811 | 630 | c.822 others(647): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(623): Show |
intron_variant | MODIFIER | HG01109.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0117a0001c0003t0002g0033 | 2 | 148 | 0.0135 | 630 | c.822 others(647): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2141872 | T | TGCCTCCT others(623): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02155.hp2 HG02165.hp2 others(10): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0004t0002a0001c0007t0001 | a0001c0004t0001g0005a0001c0004t0001g0007a0001c0004t0001g0008others(10): Show | 13 | 286 | 0.0455 | 630 | c.421 others(647): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2141939 | A | ACATCCAG others(623): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0010 | 1 | 286 | 0.0035 | 630 | c.421 others(647): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(623): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 378 | 0.0027 | 630 | c.259 others(645): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(623): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0242 | 1 | 378 | 0.0027 | 630 | c.259 others(645): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162303 | T | TCCCCTCA others(623): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 378 | 0.0027 | 630 | c.260 others(645): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1710622 | T | TCTCCACC others(623): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0023a0001c0006t0004 | a0001c0002t0023g0063a0001c0006t0004g0284 | 2 | 322 | 0.0062 | 630 | c.201 others(649): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RECQL4_chr8_144506288_144522833 | 144513800 | T | TGAGGAGG others(623): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0018 | a0018c0042 | a0018c0042t0001 | a0018c0042t0001g0130 | 1 | 412 | 0.0024 | 630 | c.205 others(645): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 221216 | C | CACAACAG others(623): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01255.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0115a0001c0001t0002g0079a0001c0001t0003g0051others(17): Show | 20 | 133 | 0.1504 | 630 | c.614 others(647): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 305014 | G | GGGGACAG others(623): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 133 | 0.0075 | 630 | c.351 others(649): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80743919 | A | ACTAGCAC others(623): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0071 | a0001c0071t0088 | a0001c0071t0088g0035 | 1 | 196 | 0.0051 | 630 | c.655 others(649): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80743965 | C | CCCTGGTT others(623): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0072 | a0001c0072t0006 | a0001c0072t0006g0108 | 1 | 196 | 0.0051 | 630 | c.655 others(649): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744127 | C | CCCTGGTT others(623): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0085 | a0001c0085t0003 | a0001c0085t0003g0162 | 1 | 196 | 0.0051 | 630 | c.655 others(647): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(623): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 |
a0001 | a0001c0009a0001c0066 | a0001c0009t0001a0001c0066t0058 | a0001c0009t0001g0125a0001c0066t0058g0126 | 2 | 196 | 0.0102 | 630 | c.655 others(647): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(623): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0097 | a0001c0097t0001 | a0001c0097t0001g0157 | 1 | 196 | 0.0051 | 630 | c.655 others(647): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACTG others(623): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0033 | 1 | 196 | 0.0051 | 630 | c.655 others(647): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACACATCC others(623): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0205 | 1 | 378 | 0.0027 | 630 | c.937 others(647): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(623): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 324 | 0.0031 | 630 | c.115 others(647): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(623): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 324 | 0.0031 | 630 | c.115 others(647): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(623): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 324 | 0.0031 | 630 | c.115 others(647): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(623): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0198 | 1 | 376 | 0.0027 | 630 | c.101 others(647): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739952 | C | CAGGGAGT others(623): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 445 | 0.0023 | 630 | c.-29 others(641): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2918 | chr17 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663441 | T | TCCACCTC others(623): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0108 | 1 | 160 | 0.0063 | 630 | c.688 others(647): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC24A3_chr20_19207642_19727926 | 19663441 | T | TCCACCTC others(623): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0087 | 1 | 160 | 0.0063 | 630 | c.688 others(647): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATT others(623): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 156 | 0.0064 | 630 | c.176 others(647): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SLX9_chr21_44935029_44981973 | 44981738 | A | AGGGGACA others(623): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 334 | 0.0030 | 630 | c.*49 others(641): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 4766 | chr21 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(623): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 630 | c.*12 others(641): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(623): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 630 | c.*12 others(641): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 246243972 | G | GGCTGAAG others(623): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG02056.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0090a0001c0001t0002g0052a0001c0001t0002g0087others(4): Show | 7 | 150 | 0.0467 | 630 | c.531 others(649): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(623): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0192 | 1 | 268 | 0.0037 | 630 | c.*75 others(641): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(623): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 258 | 0.0039 | 630 | c.113 others(649): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89884843 | C | CCTCTCCC others(623): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 300 | 0.0033 | 630 | c.429 others(645): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89884843 | C | CCTCTCCC others(623): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0269 | 1 | 300 | 0.0033 | 630 | c.429 others(645): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89908674 | T | TCCTCCCA others(623): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03669.hp2 HG03704.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0004 | a0001c0001t0001g0265a0001c0001t0001g0270a0001c0005t0001g0266others(3): Show | 6 | 300 | 0.0200 | 630 | c.179 others(649): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89908696 | C | CCTCCCAC others(623): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02647.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0098a0001c0001t0001g0272a0002c0003t0001g0191others(11): Show | 14 | 300 | 0.0467 | 630 | c.179 others(649): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TENM4_chr11_78647829_79446030 | 79139595 | A | ATATATAA others(623): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0011 | 1 | 94 | 0.0106 | 630 | c.-66 others(647): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1290319 | A | ACACGTGA others(623): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 392 | 0.0026 | 630 | c.157 others(649): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1290682 | T | TGCCTCAC others(623): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 392 | 0.0026 | 630 | c.157 others(649): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1290736 | C | CCTATACC others(623): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0191 | 1 | 392 | 0.0026 | 630 | c.157 others(649): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1291309 | G | GGCACCTC others(623): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19004.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060a0001c0002t0001g0061 | 2 | 392 | 0.0051 | 630 | c.157 others(649): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar |