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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDXDC1_chr16_14970026_15043332 | 14984476 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01981.hp1 others(4): Show |
a0002a0010 | a0002c0002a0002c0004a0010c0013 | a0002c0002t0001a0002c0004t0006a0010c0013t0001 | a0002c0002t0001g0015 a0002c0002t0001g0027 a0002c0002t0001g0055 others(4): Show |
7 | 279 | 0.0251 | 24 | c.21+ others(39): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14984495 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 | 1 | 279 | 0.0036 | 24 | c.21+ others(39): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(17): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 358 | 0.0028 | 24 | c.143 others(39): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741153 | C | CGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0081 | a0001c0003t0008g0003 a0001c0003t0008g0235 a0001c0003t0081g0237 |
3 | 358 | 0.0084 | 24 | c.143 others(39): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741233 | C | CGGGGGGC others(17): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 358 | 0.0028 | 24 | c.143 others(39): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741315 | G | GGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0018 | 1 | 358 | 0.0028 | 24 | c.143 others(39): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31640069 | T | TTCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0062others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(16): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0023 others(25): Show |
28 | 216 | 0.1296 | 24 | c.-36 others(41): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31752068 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0158 | 1 | 216 | 0.0046 | 24 | c.-36 others(45): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31878555 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp2 |
a0009a0029 | a0009c0014a0029c0052 | a0009c0014t0001a0029c0052t0003 | a0009c0014t0001g0159 a0029c0052t0003g0003 |
2 | 216 | 0.0093 | 24 | c.476 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31884227 | G | GCATACAT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0024 | a0024c0049 | a0024c0049t0008 | a0024c0049t0008g0160 | 1 | 216 | 0.0046 | 24 | c.476 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31884231 | G | GCATACAT others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0029 | a0004c0029t0049 | a0004c0029t0049g0001 | 1 | 216 | 0.0046 | 24 | c.476 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31884259 | A | ACATACAT others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 |
a0001a0028 | a0001c0050a0028c0054 | a0001c0050t0036a0028c0054t0009 | a0001c0050t0036g0148 a0028c0054t0009g0039 |
2 | 216 | 0.0093 | 24 | c.476 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31961590 | A | AATAGCAT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 216 | 0.0046 | 24 | c.477 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31969509 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 216 | 0.0046 | 24 | c.477 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32025591 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 216 | 0.0046 | 24 | c.140 others(45): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017891 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0204 a0002c0002t0001g0249 |
2 | 432 | 0.0046 | 24 | c.152 others(41): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101019542 | G | GCCTCCGC others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0401 | 1 | 432 | 0.0023 | 24 | c.929 others(39): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101019542 | G | GCCTCCTC others(17): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0352 | 1 | 432 | 0.0023 | 24 | c.929 others(39): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73452839 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0040 a0001c0001t0002g0036 a0001c0002t0003g0049 |
3 | 216 | 0.0139 | 24 | c.919 others(43): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73562983 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 HG04199.hp1 |
a0001 | a0001c0005a0001c0019 | a0001c0005t0002a0001c0019t0001 | a0001c0005t0002g0210 a0001c0005t0002g0211 a0001c0019t0001g0005 |
3 | 216 | 0.0139 | 24 | c.918 others(43): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73563013 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 216 | 0.0046 | 24 | c.918 others(43): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73573772 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0002t0002g0168 |
3 | 216 | 0.0139 | 24 | c.918 others(43): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp2 others(15): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0013 a0001c0001t0002g0014 a0001c0001t0002g0041 others(15): Show |
18 | 206 | 0.0874 | 24 | c.843 others(43): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41266310 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0092 | 1 | 206 | 0.0049 | 24 | c.843 others(43): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01192.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0013others(8): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0005others(10): Show | a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0004t0001g0046 others(15): Show |
18 | 206 | 0.0874 | 24 | c.843 others(45): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(17): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02486.hp2 HG02735.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0049others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0042 a0002c0002t0001g0183 a0002c0002t0002g0170 others(2): Show |
5 | 206 | 0.0243 | 24 | c.843 others(45): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41351980 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 NA19012.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0084 a0001c0004t0001g0069 a0002c0002t0001g0087 |
3 | 206 | 0.0146 | 24 | c.844 others(45): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41446245 | C | CTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03225.hp2 |
a0004a0005 | a0004c0020a0005c0028 | a0004c0020t0001a0005c0028t0001 | a0004c0020t0001g0004 a0005c0028t0001g0089 |
2 | 206 | 0.0097 | 24 | c.844 others(43): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77313702 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0034 | a0001c0004t0034g0308 | 1 | 326 | 0.0031 | 24 | c.-60 others(45): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77313702 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0302 | 1 | 326 | 0.0031 | 24 | c.-60 others(45): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77313708 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0306 | 1 | 326 | 0.0031 | 24 | c.-60 others(45): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728555 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0134 a0002c0002t0002g0210 |
2 | 278 | 0.0072 | 24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0039 | 1 | 278 | 0.0036 | 24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0015 | a0015c0023 | a0015c0023t0002 | a0015c0023t0002g0232 | 1 | 278 | 0.0036 | 24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0033 a0005c0006t0001g0080 |
2 | 278 | 0.0072 | 24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22765116 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18960.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0147 a0003c0004t0003g0052 |
2 | 278 | 0.0072 | 24 | c.358 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22830113 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0017 | a0017c0026 | a0017c0026t0002 | a0017c0026t0002g0238 | 1 | 278 | 0.0036 | 24 | c.259 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22860185 | T | TATATATG others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | 278 | 0.0072 | 24 | c.259 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22860194 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02683.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0003 | a0001c0001t0001g0138 a0001c0001t0002g0266 a0003c0004t0003g0137 |
3 | 278 | 0.0108 | 24 | c.259 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22878210 | T | TGGAGAGG others(17): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0161 | 1 | 278 | 0.0036 | 24 | c.258 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64377617 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02922.hp1 others(13): Show |
a0001a0003a0008 | a0001c0004a0001c0006a0003c0009others(2): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0011others(6): Show | a0001c0004t0003g0162 a0001c0004t0005g0142 a0001c0004t0005g0143 others(11): Show |
16 | 288 | 0.0556 | 24 | c.385 others(39): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33393276 | T | TGGGGTCT others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02897.hp2 HG03540.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0139 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show |
4 | 314 | 0.0127 | 24 | c.968 others(41): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33422818 | A | ATATCTAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01192.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0190 others(41): Show |
44 | 314 | 0.1401 | 24 | c.672 others(41): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33423095 | T | TCATCCAT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01257.hp2 HG02148.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0002 | a0001c0003t0001g0280 a0001c0003t0001g0285 a0001c0003t0001g0288 others(9): Show |
12 | 314 | 0.0382 | 24 | c.672 others(41): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33431992 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 314 | 0.0032 | 24 | c.672 others(43): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33453317 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0186 others(3): Show |
6 | 314 | 0.0191 | 24 | c.671 others(41): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806810 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 410 | 0.0024 | 24 | c.113 others(43): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0096 | 1 | 410 | 0.0024 | 24 | c.113 others(43): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18975.hp1 |
a0001 | a0001c0003a0001c0028 | a0001c0003t0001a0001c0028t0001 | a0001c0003t0001g0101 a0001c0028t0001g0122 |
2 | 410 | 0.0049 | 24 | c.113 others(43): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02004.hp2 NA18978.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0104 a0001c0003t0001g0113 a0001c0003t0001g0135 others(3): Show |
6 | 410 | 0.0146 | 24 | c.152 others(43): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |