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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRD_chr9_8309246_10618002 | 9019360 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0015 | 1 | 34 | 0.0294 | 26 | c.-14 others(43): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 10/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9208020 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03579.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0022a0001c0004t0018a0002c0005t0010 | a0001c0001t0022g0012 a0001c0004t0018g0015 a0002c0005t0010g0026 |
3 | 34 | 0.0882 | 26 | c.-20 others(47): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 9/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9998129 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 34 | 0.0294 | 26 | c.-47 others(47): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10031647 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0023 | 1 | 34 | 0.0294 | 26 | c.-47 others(45): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10395954 | T | TGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0011 | a0001c0001t0001g0006 a0001c0002t0011g0030 |
2 | 34 | 0.0588 | 26 | c.-59 others(47): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10504115 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0026 | 1 | 34 | 0.0294 | 26 | c.-60 others(49): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10509557 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03834.hp2 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0022a0004c0010t0006 | a0001c0001t0022g0012 a0004c0010t0006g0007 |
2 | 34 | 0.0588 | 26 | c.-60 others(49): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10523601 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0026 | 1 | 34 | 0.0294 | 26 | c.-60 others(47): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61676456 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0033 a0001c0001t0006g0037 |
2 | 94 | 0.0213 | 26 | c.86- others(43): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62265896 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 |
a0002a0009 | a0002c0002a0009c0018 | a0002c0002t0011a0009c0018t0006 | a0002c0002t0011g0056 a0009c0018t0006g0039 |
2 | 94 | 0.0213 | 26 | c.265 others(45): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62265896 | T | TATACACA others(19): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0086 a0002c0002t0002g0020 |
2 | 94 | 0.0213 | 26 | c.265 others(45): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62265896 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 1 | 94 | 0.0106 | 26 | c.265 others(45): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62281538 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0055 others(1): Show |
4 | 94 | 0.0426 | 26 | c.376 others(41): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 48159122 | G | GGGGTGTG others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0010 | a0001c0005a0002c0001a0010c0013 | a0001c0005t0004a0002c0001t0007a0002c0001t0011others(2): Show | a0001c0005t0004g0150 a0002c0001t0007g0188 a0002c0001t0011g0027 others(3): Show |
6 | 216 | 0.0278 | 26 | c.343 others(43): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128322667 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0044 | 1 | 53 | 0.0189 | 26 | c.224 others(41): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 2/29 | chr6 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 7658330 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0001a0001c0021t0001 | a0001c0004t0001g0063 a0001c0021t0001g0062 |
2 | 80 | 0.0250 | 26 | c.73+ others(43): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7772369 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0067 | 1 | 80 | 0.0125 | 26 | c.74- others(41): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7834491 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0038 | 1 | 80 | 0.0125 | 26 | c.197 others(45): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7834491 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0004t0001others(6): Show | a0001c0001t0002g0027 a0001c0001t0005g0026 a0001c0004t0001g0066 others(6): Show |
9 | 80 | 0.1125 | 26 | c.197 others(45): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7834491 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00673.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0002g0004 others(9): Show |
12 | 80 | 0.1500 | 26 | c.197 others(45): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7960480 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0025 | 1 | 80 | 0.0125 | 26 | c.113 others(45): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7984602 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 80 | 0.0125 | 26 | c.113 others(47): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8023831 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 80 | 0.0125 | 26 | c.113 others(47): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8054298 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0029 | 1 | 80 | 0.0125 | 26 | c.113 others(47): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8289565 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 80 | 0.0125 | 26 | c.275 others(45): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRO_chr12_15317508_15603331 | 15360969 | C | CACATGTG others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0027 | 1 | 164 | 0.0061 | 26 | c.75+ others(43): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80514402 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0059 | a0059c0043 | a0059c0043t0004 | a0059c0043t0004g0076 | 1 | 178 | 0.0056 | 26 | c.267 others(45): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80558024 | T | TCTTTCTT others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0012 | a0012c0017 | a0012c0017t0002 | a0012c0017t0002g0093 | 1 | 178 | 0.0056 | 26 | c.428 others(45): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80558119 | C | CTTTTCTT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0002a0007c0010t0002 | a0001c0001t0002g0085 a0007c0010t0002g0051 |
2 | 178 | 0.0112 | 26 | c.428 others(45): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5228347 | G | GAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03098.hp2 |
a0001 | a0001c0015a0001c0035 | a0001c0015t0021a0001c0035t0044 | a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0035t0044g0045 |
3 | 276 | 0.0109 | 26 | c.237 others(43): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 16/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0027 | a0001c0027t0003 | a0001c0027t0003g0010 | 1 | 276 | 0.0036 | 26 | c.-94 others(45): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42404972 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG03540.hp2 others(1): Show |
a0001a0002a0004 | a0001c0008a0002c0004a0002c0009others(1): Show | a0001c0008t0001a0002c0004t0004a0002c0009t0001others(1): Show | a0001c0008t0001g0060 a0002c0004t0004g0026 a0002c0009t0001g0018 others(1): Show |
4 | 62 | 0.0645 | 26 | c.156 others(47): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | |||||||
PTPRZ1_chr7_121868161_122067036 | 121905650 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0161 | 1 | 312 | 0.0032 | 26 | c.59- others(43): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTX3_chr3_157431850_157448633 | 157446220 | A | AATATTGA others(19): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0011 | 1 | 472 | 0.0021 | 26 | c.*32 others(37): Show |
PTX3 | ENSG00000163661.4 | transcript | ENST00000295927.4 | protein_coding | 2588 | chr3 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0030 | 1 | 334 | 0.0030 | 26 | c.364 others(45): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0257 | 1 | 334 | 0.0030 | 26 | c.364 others(45): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 334 | 0.0030 | 26 | c.364 others(45): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063 a0001c0001t0002g0071 a0001c0001t0002g0132 |
3 | 334 | 0.0090 | 26 | c.364 others(45): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0222 others(5): Show |
8 | 358 | 0.0224 | 26 | c.195 others(45): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUS3_chr11_125888485_125908206 | 125901008 | C | CAGAAAAA others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 450 | 0.0022 | 26 | c.-47 others(43): Show |
PUS3 | ENSG00000110060.9 | transcript | ENST00000227474.8 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718807 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0008 a0002c0002t0005g0162 |
2 | 306 | 0.0065 | 26 | c.*11 others(39): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 184 | chr12 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718807 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 | 1 | 306 | 0.0033 | 26 | c.*11 others(39): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 184 | chr12 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01978.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0043 others(12): Show |
15 | 350 | 0.0429 | 26 | c.*21 others(37): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456076 | A | AAAATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 350 | 0.0029 | 26 | c.*17 others(37): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 426 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0031 a0001c0001t0001g0200 a0001c0001t0001g0204 others(2): Show |
5 | 350 | 0.0143 | 26 | c.*16 others(37): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 350 | 0.0029 | 26 | c.*16 others(37): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44667617 | T | TATTTATA others(19): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0186 a0001c0001t0005g0004 |
2 | 412 | 0.0049 | 26 | c.*58 others(37): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1456 | chr19 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160092013 | G | GATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0009a0001c0001t0019a0001c0001t0022others(3): Show | a0001c0001t0009g0008 a0001c0001t0009g0022 a0001c0001t0009g0287 others(12): Show |
15 | 384 | 0.0391 | 26 | c.*36 others(35): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 2/2 | 368 | chr5 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132403992 | T | TAGGACGG others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0133 a0001c0001t0001g0224 others(1): Show |
6 | 374 | 0.0160 | 26 | c.126 others(41): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132404008 | A | AGGGCTCC others(19): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0003c0005t0001g0008 others(4): Show |
12 | 374 | 0.0321 | 26 | c.126 others(41): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |