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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE4B_chr1_65787895_66379574 | 66371279 | G | GACATTAT others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032a0001c0001t0005g0059 | 2 | 118 | 0.0170 | 32 | c.184 others(51): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 16/16 | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59181543 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 74 | 0.0135 | 32 | c.759 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59762263 | T | TATATGGG others(25): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0026 | 1 | 74 | 0.0135 | 32 | c.455 others(53): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATAGATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0007 | a0004c0007t0007 | a0004c0007t0007g0039 | 1 | 336 | 0.0030 | 32 | c.-34 others(43): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATAGATA others(25): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0276 | 1 | 336 | 0.0030 | 32 | c.-34 others(43): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(5): Show | a0001c0001t0001g0180a0001c0001t0001g0207a0001c0001t0001g0208others(17): Show | 20 | 336 | 0.0595 | 32 | c.-34 others(43): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0022a0001c0001t0002g0074a0001c0001t0004g0037others(1): Show | 4 | 328 | 0.0122 | 32 | c.111 others(49): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 |
a0002 | a0002c0003 | a0002c0003t0011a0002c0003t0050 | a0002c0003t0011g0216a0002c0003t0050g0219 | 2 | 328 | 0.0061 | 32 | c.858 others(49): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0222 | 1 | 328 | 0.0031 | 32 | c.858 others(49): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93644901 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00735.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0047a0001c0001t0001g0104others(33): Show | 36 | 384 | 0.0938 | 32 | c.184 others(51): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE7A_chr8_65709334_65847064 | 65730171 | C | CTTCTTTT others(25): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0054 | 1 | 248 | 0.0040 | 32 | c.697 others(49): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0055 | 1 | 248 | 0.0040 | 32 | c.139 others(51): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135928465 | T | TTATTTAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0107a0001c0001t0001g0123a0001c0001t0002g0007others(10): Show | 13 | 142 | 0.0916 | 32 | c.22- others(49): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136148466 | A | AAGGCAGG others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 142 | 0.0070 | 32 | c.319 others(47): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136148470 | A | AAGGCAGG others(25): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18979.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0026 | a0001c0001t0008g0043a0001c0001t0008g0075a0001c0001t0026g0119 | 3 | 142 | 0.0211 | 32 | c.319 others(47): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 344 | 0.0029 | 32 | c.173 others(51): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 314 | 0.0032 | 32 | c.116 others(51): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42653533 | G | GGGGGGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0321 | 1 | 324 | 0.0031 | 32 | c.-28 others(41): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 87 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653533 | G | GGGGGGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0314a0001c0002t0001g0317 | 2 | 324 | 0.0062 | 32 | c.-28 others(41): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 87 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 324 | 0.0031 | 32 | c.263 others(49): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFC_chr4_156755454_156976799 | 156824327 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18980.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0025 | a0001c0002t0006g0082a0001c0002t0025g0081 | 2 | 208 | 0.0096 | 32 | c.315 others(51): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104082133 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 NA19063.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0006 | a0001c0001t0003g0140a0001c0002t0001g0006a0001c0002t0001g0091others(2): Show | 5 | 200 | 0.0250 | 32 | c.124 others(51): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119437 | G | GATATAAT others(25): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 200 | 0.0050 | 32 | c.124 others(51): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17580344 | T | TAGTTCTT others(25): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 400 | 0.0025 | 32 | c.55+ others(47): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18941.hp2 NA18963.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099a0001c0001t0001g0270a0001c0001t0001g0271others(5): Show | 8 | 400 | 0.0200 | 32 | c.353 others(47): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0257 | 2 | 400 | 0.0050 | 32 | c.940 others(47): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 400 | 0.0025 | 32 | c.940 others(47): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34949320 | A | ACCTCCGC others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01496.hp2 others(39): Show |
a0001a0002a0008 | a0001c0014a0001c0017a0001c0023others(5): Show | a0001c0014t0009a0001c0017t0007a0001c0023t0009others(6): Show | a0001c0014t0009g0109a0001c0014t0009g0110a0001c0017t0007g0144others(33): Show | 42 | 314 | 0.1338 | 32 | c.342 others(49): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123117372 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 332 | 0.0030 | 32 | c.609 others(49): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG02258.hp2 others(4): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0015 | a0001c0001t0001a0001c0002t0001a0008c0015t0001 | a0001c0001t0001g0169a0001c0001t0001g0275a0001c0002t0001g0030others(4): Show | 7 | 332 | 0.0211 | 32 | c.609 others(49): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02735.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0003 | a0001c0001t0004g0221a0002c0003t0003g0297 | 2 | 338 | 0.0059 | 32 | c.533 others(49): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95257001 | A | AAGAAAAG others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 338 | 0.0030 | 32 | c.533 others(49): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95257038 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0262 | 2 | 338 | 0.0059 | 32 | c.533 others(49): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94542307 | C | CAAATAAA others(25): Show |
intron_variant | MODIFIER | HG03942.hp2 HG06807.hp2 |
a0001a0010 | a0001c0006a0010c0012 | a0001c0006t0013a0010c0012t0010 | a0001c0006t0013g0098a0010c0012t0010g0217 | 2 | 218 | 0.0092 | 32 | c.248 others(51): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDPN_chr1_13578832_13622957 | 13618013 | T | TCCAGATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 446 | 0.0022 | 32 | c.*21 others(43): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 57 | chr1 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39842903 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0331 | 1 | 356 | 0.0028 | 32 | c.354 others(49): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02970.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0085a0001c0001t0002g0240 | 3 | 356 | 0.0084 | 32 | c.354 others(49): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655359 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02683.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138a0001c0001t0002g0149a0001c0001t0002g0170 | 3 | 334 | 0.0090 | 32 | c.313 others(49): 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(25): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 334 | 0.0030 | 32 | c.313 others(49): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS1_chr10_26692701_26751798 | 26693076 | G | GATATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 416 | 0.0024 | 32 | c.-46 others(43): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4624 | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01928.hp2 HG02015.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0006 | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0056others(10): Show | 13 | 416 | 0.0313 | 32 | c.-46 others(43): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02004.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055 | 3 | 416 | 0.0072 | 32 | c.163 others(47): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDSS2_chr6_107147562_107464564 | 107173572 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 260 | 0.0039 | 32 | c.104 others(53): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107225135 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 260 | 0.0039 | 32 | c.703 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 260 | 0.0039 | 32 | c.296 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 260 | 0.0039 | 32 | c.296 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 260 | 0.0039 | 32 | c.296 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 260 | 0.0039 | 32 | c.296 others(51): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14984476 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01978.hp2 HG02004.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0012a0002c0002t0001g0049a0002c0002t0008g0104 | 3 | 279 | 0.0108 | 32 | c.21+ others(47): 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(25): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03195.hp2 |
a0002 | a0002c0002a0002c0018 | a0002c0002t0001a0002c0018t0001 | a0002c0002t0001g0018a0002c0018t0001g0176 | 2 | 279 | 0.0072 | 32 | c.21+ others(47): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |