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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6C_chr10_93607537_93671010 | 93654750 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(77): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(75): Show |
80 | 298 | 0.2685 | -32 | c.193 others(49): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037 a0001c0001t0001g0167 a0001c0001t0001g0168 others(4): Show |
7 | 44 | 0.1591 | -32 | c.244 others(47): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42740573 | AGATGGAT others(25): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02109.hp1 others(13): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0027 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | 216 | 0.0741 | -32 | c.569 others(49): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247877 | AAAAAAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0080 | 1 | 297 | 0.0034 | -32 | c.-39 others(43): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2896 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824285 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 130 | 0.0077 | -32 | c.315 others(51): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02280.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0016 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | 9 | 0.6667 | -32 | c.-40 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17592925 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 others(1): Show |
4 | 398 | 0.0101 | -32 | c.353 others(49): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20367024 | CTTCTTTC others(25): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01975.hp1 HG02293.hp2 others(4): Show |
a0002a0003a0004 | a0002c0003a0003c0002a0004c0006 | a0002c0003t0001a0003c0002t0001a0004c0006t0001 | a0002c0003t0001g0047 a0002c0003t0001g0184 a0003c0002t0001g0074 others(4): Show |
7 | 125 | 0.0560 | -32 | c.111 others(51): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66887991 | GTCCTTCC others(25): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03209.hp2 HG03225.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0034a0001c0001t0047 | a0001c0001t0023g0002 a0001c0001t0034g0002 a0001c0001t0047g0002 |
5 | 97 | 0.0515 | -32 | c.*21 others(43): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2/2 | 2154 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDP2_chr16_66875515_66896101 | 66893498 | GATATATA others(25): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp2 NA18967.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 4 | 318 | 0.0126 | -32 | c.*76 others(43): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2398 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893523 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 339 | 0.0029 | -32 | c.*76 others(43): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2423 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893525 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0072 | a0001c0001t0067g0007 a0001c0001t0072g0007 |
2 | 354 | 0.0056 | -32 | c.*76 others(43): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2425 | chr16 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13613514 | CAGTGCCA others(25): Show |
C | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 444 | 0.0023 | -32 | c.332 others(47): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0002g0228 others(52): Show |
55 | 110 | 0.5000 | -32 | c.*75 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107402453 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02165.hp1 HG02630.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0105 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show |
4 | 236 | 0.0169 | -32 | c.296 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43755172 | TTGACTCT others(25): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01358.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0083others(1): Show | a0001c0001t0002g0054 a0001c0001t0015g0061 a0001c0001t0015g0063 others(5): Show |
8 | 354 | 0.0226 | -32 | c.760 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31840396 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0026 | a0026c0046 | a0026c0046t0014 | a0026c0046t0014g0080 | 1 | 42 | 0.0238 | -32 | c.476 others(51): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849905 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 |
a0001a0017 | a0001c0001a0017c0031 | a0001c0001t0001a0017c0031t0001 | a0001c0001t0001g0086 a0017c0031t0001g0186 |
2 | 208 | 0.0096 | -32 | c.476 others(51): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849935 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02523.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0032 a0002c0002t0001g0165 |
2 | 195 | 0.0103 | -32 | c.476 others(51): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(25): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0189 | 1 | 112 | 0.0089 | -32 | c.872 others(51): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77226044 | GATATATA others(25): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0184 | 1 | 173 | 0.0058 | -32 | c.-11 others(53): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PELI3_chr11_66461905_66482337 | 66463160 | AAGAGACC others(25): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 394 | 0.0025 | -32 | c.-38 others(43): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 3744 | chr11 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17586260 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 346 | 0.0029 | -32 | c.96+ others(47): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8141688 | TCCCTTGA others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(196): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(59): Show |
199 | 421 | 0.4727 | -32 | c.360 others(48): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 22/22 | chr17 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 975698 | CTGCCTCT others(25): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0063 | 1 | 406 | 0.0025 | -32 | c.*44 others(41): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 4/4 | 442 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976714 | ACCAACCC others(25): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0188 | 1 | 403 | 0.0025 | -32 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577552 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18979.hp1 NA18979.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0054 a0001c0001t0001g0140 a0001c0001t0003g0058 others(1): Show |
4 | 240 | 0.0167 | -32 | c.170 others(51): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577554 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA18971.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(1): Show |
4 | 232 | 0.0172 | -32 | c.170 others(51): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577556 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | NA18942.hp2 NA19070.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0037 a0001c0004t0001g0038 |
2 | 233 | 0.0086 | -32 | c.170 others(51): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX19_chr1_160271807_160290133 | 160289235 | ACAAGAAC others(25): Show |
A | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 376 | 0.0027 | -32 | c.-41 others(43): Show |
PEX19 | ENSG00000162735.19 | transcript | ENST00000368072.10 | protein_coding | 4103 | chr1 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92515063 | TTATCTAT others(25): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 307 | 0.0033 | -32 | c.124 others(51): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0004a0007others(5): Show | a0001c0001a0004c0005a0007c0017others(5): Show | a0001c0001t0001a0001c0001t0004a0004c0005t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
239 | 244 | 0.9795 | -32 | c.124 others(51): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855075 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
6 | 314 | 0.0191 | -32 | c.*95 others(41): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 593 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855077 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp2 HG03453.hp1 NA18994.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 397 | 0.0151 | -32 | c.*95 others(41): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 595 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp1 HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0003 |
3 | 415 | 0.0072 | -32 | c.*95 others(41): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | |||||||
PFN1_chr17_4940652_4953530 | 4953326 | GGGACCGA others(25): Show |
G | upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 430 | 0.0023 | -32 | c.-49 others(43): Show |
PFN1 | ENSG00000108518.8 | transcript | ENST00000225655.6 | protein_coding | 4797 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39684349 | AAGAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 374 | 0.0027 | -32 | c.432 others(47): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | TTTCCTTC others(25): Show |
T | downstream_gene_variant | MODIFIER | HG01516.hp2 HG02897.hp1 NA19062.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 a0003c0003t0001g0246 a0003c0003t0001g0272 |
3 | 126 | 0.0238 | -32 | c.*79 others(41): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482520 | TTTTCTTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0318 | 1 | 370 | 0.0027 | -32 | c.-31 others(43): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3020 | chr19 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63647256 | TTACATAT others(25): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG02886.hp2 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0006a0002c0002a0005c0005others(1): Show | a0001c0006t0003a0002c0002t0003a0005c0005t0003others(1): Show | a0001c0006t0003g0139 a0001c0006t0003g0143 a0001c0006t0003g0146 others(5): Show |
8 | 245 | 0.0327 | -32 | c.114 others(51): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63647259 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01069.hp1 others(28): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0133 others(28): Show |
31 | 167 | 0.1856 | -32 | c.114 others(51): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68406660 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0010a0001c0001t0011a0001c0001t0028others(2): Show | a0001c0001t0010g0214 a0001c0001t0010g0223 a0001c0001t0010g0228 others(7): Show |
10 | 165 | 0.0606 | -32 | c.104 others(53): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101052269 | CTGTGTGT others(25): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241 a0001c0001t0004g0242 |
2 | 4 | 0.5000 | -32 | c.221 others(49): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12892134 | AAAGCTTT others(25): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01175.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 others(22): Show |
25 | 108 | 0.2315 | -32 | c.250 others(53): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064582 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 106 | 0.0094 | -32 | c.415 others(51): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064586 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0037 a0001c0002t0004g0108 |
2 | 106 | 0.0189 | -32 | c.415 others(51): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13196246 | GTCAAGGG others(25): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0072 a0001c0001t0003g0099 a0001c0002t0001g0013 others(6): Show |
9 | 108 | 0.0833 | -32 | c.665 others(49): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44973672 | GGGGTGAG others(25): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0002t0006a0001c0017t0033 | a0001c0001t0001g0032 a0001c0001t0001g0107 a0001c0002t0006g0109 others(1): Show |
4 | 298 | 0.0134 | -32 | c.120 others(51): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHKA1_chrX_72573814_72719306 | 72578492 | AAGAAAAG others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0028 | 1 | 235 | 0.0043 | -32 | c.*24 others(43): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 321 | chrX | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62804822 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02572.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 a0001c0002t0001g0168 |
2 | 186 | 0.0108 | -32 | c.157 others(53): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |