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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARD3B_chr2_204540475_205625162 | 205380896 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0047 | 1 | 25 | 0.0400 | 50 | c.263 others(71): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34640708 | C | CAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0017 | 1 | 7 | 0.1429 | 50 | c.222 others(69): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122539567 | C | CTTTCTTT others(43): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0311 | 1 | 429 | 0.0023 | 50 | c.176 others(67): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562857 | C | CCGGGCGG others(43): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 192 | 0.0052 | 50 | c.-10 others(61): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 817 | chrX | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61952253 | T | TGAGAGAG others(43): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0039 | a0039c0108 | a0039c0108t0002 | a0039c0108t0002g0124 | 1 | 42 | 0.0238 | 50 | c.367 others(71): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(43): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 125 | 0.0080 | 50 | c.274 others(69): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779882 | C | CGGGGGGC others(43): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 292 | 0.0034 | 50 | c.274 others(69): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779892 | A | ACCCCCCC others(43): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0171 a0001c0001t0007g0129 |
2 | 291 | 0.0069 | 50 | c.274 others(69): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264196 | C | CGTATATA others(43): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147 a0001c0001t0002g0066 |
2 | 123 | 0.0163 | 50 | c.819 others(67): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | chr13 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92331288 | C | CTTCTTCT others(43): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 151 | 0.0066 | 50 | c.314 others(71): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92331291 | C | CTTCTTCT others(43): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 111 | 0.0090 | 50 | c.314 others(71): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888359 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp2 |
a0014a0028 | a0014c0033a0028c0011 | a0014c0033t0017a0028c0011t0012 | a0014c0033t0017g0030 a0028c0011t0012g0086 |
2 | 33 | 0.0606 | 50 | c.350 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54622704 | A | ATATATTA others(43): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0054 | 1 | 100 | 0.0100 | 50 | c.91+ others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888359 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0022 | 1 | 28 | 0.0357 | 50 | c.350 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54622704 | A | ATATATTA others(43): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0051 | 1 | 92 | 0.0109 | 50 | c.91+ others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30974246 | C | CTTCCTTT others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 NA19060.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0001a0001c0004t0007 | a0001c0001t0012g0029 a0001c0004t0001g0015 a0001c0004t0007g0016 |
3 | 100 | 0.0300 | 50 | c.339 others(71): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91225220 | T | TGATATAT others(43): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 316 | 0.0032 | 50 | c.112 others(67): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311860 | A | ACCCCTCA others(43): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 |
a0002 | a0002c0008a0002c0033 | a0002c0008t0001a0002c0033t0001 | a0002c0008t0001g0021 a0002c0033t0001g0029 |
2 | 334 | 0.0060 | 50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311963 | A | ACCCTCAC others(43): Show |
intron_variant | MODIFIER | HG01106.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0270 |
2 | 301 | 0.0066 | 50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312084 | G | GTCACCCC others(43): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01975.hp2 HG02165.hp1 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0004a0001c0004t0004a0001c0005t0004others(5): Show | a0001c0002t0004g0211 a0001c0002t0004g0239 a0001c0004t0004g0042 others(9): Show |
12 | 331 | 0.0363 | 50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312089 | A | ACCCTCAC others(43): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0019 | 1 | 290 | 0.0034 | 50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312185 | G | GTCACCCC others(43): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0095 | 1 | 248 | 0.0040 | 50 | c.269 others(69): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0085 | 1 | 137 | 0.0073 | 50 | c.117 others(67): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT2_chr17_81895958_81916399 | 81904969 | A | AGAGAGCG others(43): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 298 | 0.0034 | 50 | c.105 others(65): Show |
PCYT2 | ENSG00000185813.11 | transcript | ENST00000538936.7 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241847811 | C | CGCGCTGC others(43): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0006a0001c0001t0007a0001c0009t0015others(1): Show | a0001c0001t0006g0065 a0001c0001t0007g0037 a0001c0001t0007g0063 others(4): Show |
8 | 317 | 0.0252 | 50 | c.*32 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2072 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241848214 | G | GCCGCGCT others(43): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show |
a0002a0004a0005 | a0002c0003a0004c0007a0005c0014 | a0002c0003t0002a0002c0003t0004a0002c0003t0012others(3): Show | a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show |
91 | 406 | 0.2241 | 50 | c.*28 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1669 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241848305 | T | TGCTGGCG others(43): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 321 | 0.0031 | 50 | c.*27 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1578 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241848534 | T | TTGAGAGC others(43): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show |
a0002a0004a0005 | a0002c0003a0004c0007a0005c0014 | a0002c0003t0002a0002c0003t0004a0002c0003t0012others(3): Show | a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show |
91 | 323 | 0.2817 | 50 | c.*25 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1349 | chr2 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241848734 | A | ATGAGAGC others(43): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show |
a0002a0004a0005 | a0002c0003a0004c0007a0005c0014 | a0002c0003t0002a0002c0003t0004a0002c0003t0012others(3): Show | a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show |
91 | 406 | 0.2241 | 50 | c.*23 others(61): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1149 | chr2 | TogoVar | |||||||
PDCD2L_chr19_34399399_34431168 | 34413046 | A | ATTTTTTT others(43): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 379 | 0.0026 | 50 | c.687 others(65): Show |
PDCD2L | ENSG00000126249.8 | transcript | ENST00000246535.4 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165619494 | G | GTAGTGTA others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01081.hp1 others(16): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0003g0012 others(16): Show |
19 | 220 | 0.0864 | 50 | c.865 others(69): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0210 | 1 | 65 | 0.0154 | 50 | c.54- others(63): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 651085 | T | TGTCACAG others(43): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0009a0007c0027 | a0001c0001t0002a0001c0001t0005a0001c0009t0009others(1): Show | a0001c0001t0002g0019 a0001c0001t0002g0152 a0001c0001t0002g0244 others(5): Show |
8 | 306 | 0.0261 | 50 | c.712 others(67): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 651173 | A | AGCAGTGG others(43): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0001t0003a0001c0026t0001 | a0001c0001t0001g0007 a0001c0001t0003g0066 a0001c0001t0003g0076 others(3): Show |
6 | 228 | 0.0263 | 50 | c.712 others(67): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42778082 | C | CCCCTCCT others(43): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 322 | 0.0031 | 50 | c.*27 others(61): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 2574 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42778563 | G | GCCCCCCG others(43): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0256 a0001c0002t0001g0042 |
2 | 184 | 0.0109 | 50 | c.*32 others(61): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3055 | chr21 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985166 | A | AATATATT others(43): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 | 1 | 198 | 0.0051 | 50 | c.510 others(69): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104084787 | A | ATATAAAA others(43): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0003g0146 a0001c0002t0001g0006 a0001c0002t0001g0144 others(2): Show |
5 | 96 | 0.0521 | 50 | c.124 others(69): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDHX_chr11_34911618_35001128 | 34996927 | T | TTAGAGAC others(43): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0191 | 1 | 312 | 0.0032 | 50 | c.*17 others(61): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 800 | chr11 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 286051 | C | CCCCGCGG others(43): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp1 others(4): Show |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0011 a0009c0010t0001g0053 a0009c0010t0001g0054 |
7 | 434 | 0.0161 | 50 | c.112 others(67): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13588980 | A | AGCTACTA others(43): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(6): Show | a0001c0001t0003g0183 a0001c0001t0005g0013 a0001c0001t0010g0157 others(7): Show |
12 | 258 | 0.0465 | 50 | c.67+ others(65): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 117 | 0.0085 | 50 | c.313 others(67): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 117 | 0.0085 | 50 | c.313 others(67): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 117 | 0.0085 | 50 | c.313 others(67): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77303036 | G | GATCTCTC others(43): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0177 | 1 | 324 | 0.0031 | 50 | c.-60 others(71): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22751603 | T | TGTGTGTG others(43): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0033 | a0003c0033t0008 | a0003c0033t0008g0026 | 1 | 276 | 0.0036 | 50 | c.358 others(69): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197238 | A | ATGTAATT others(43): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 417 | 0.0024 | 50 | c.449 others(67): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197316 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18997.hp1 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0193 a0001c0001t0003g0201 |
4 | 377 | 0.0106 | 50 | c.449 others(67): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197365 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0195 | 1 | 406 | 0.0025 | 50 | c.449 others(67): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197365 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0014 a0001c0001t0004g0035 a0001c0001t0004g0036 others(8): Show |
16 | 421 | 0.0380 | 50 | c.449 others(67): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |