| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PTPRM_chr18_7562316_8411856 | 7984973 | A | ATATATAC others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0079 | 1 | 80 | 0.0125 | 30 | c.113 others(51): 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(23): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03130.hp1 HG03516.hp1 |
a0001a0002 | a0001c0005a0002c0007a0002c0010 | a0001c0005t0003a0002c0007t0001a0002c0010t0001 | a0001c0005t0003g0074a0002c0007t0001g0010a0002c0010t0001g0047 | 3 | 80 | 0.0375 | 30 | c.113 others(51): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PTPRM_chr18_7562316_8411856 | 8206268 | A | ATTTTATT others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 80 | 0.0125 | 30 | c.230 others(51): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 14/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PTPRO_chr12_15317508_15603331 | 15319948 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 164 | 0.0061 | 30 | c.-27 others(41): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 2559 | chr12 | TogoVar | ||||||
| PTPRQ_chr12_80439235_80685273 | 80558119 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG03139.hp2 others(1): Show |
a0002a0034a0036others(1): Show | a0002c0029a0034c0073a0036c0075others(1): Show | a0002c0029t0001a0034c0073t0003a0036c0075t0004others(1): Show | a0002c0029t0001g0022a0034c0073t0003g0096a0036c0075t0004g0088others(1): Show | 4 | 178 | 0.0225 | 30 | c.428 others(49): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03017.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0009a0001c0003t0004a0001c0005t0003others(3): Show | a0001c0002t0009g0119a0001c0003t0004g0079a0001c0003t0004g0085others(4): Show | 7 | 276 | 0.0254 | 30 | c.-94 others(49): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
| PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0091 | 1 | 276 | 0.0036 | 30 | c.-94 others(49): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42184535 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0009 | a0009c0017 | a0009c0017t0017 | a0009c0017t0017g0022 | 1 | 62 | 0.0161 | 30 | c.249 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 16/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42184541 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0023 | 1 | 62 | 0.0161 | 30 | c.249 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 16/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42363300 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 62 | 0.0161 | 30 | c.156 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42404972 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0003 | a0001c0003t0018a0001c0003t0020 | a0001c0003t0018g0046a0001c0003t0020g0047 | 2 | 62 | 0.0323 | 30 | c.156 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42404972 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02976.hp2 |
a0001a0006 | a0001c0025a0006c0019 | a0001c0025t0015a0006c0019t0008 | a0001c0025t0015g0028a0006c0019t0008g0050 | 2 | 62 | 0.0323 | 30 | c.156 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42569077 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0053 | 1 | 62 | 0.0161 | 30 | c.115 others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42683271 | T | TTTTTGTT others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0008 | 1 | 62 | 0.0161 | 30 | c.860 others(47): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 6/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 43083320 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0011 | a0002c0011t0006 | a0002c0011t0006g0003 | 1 | 62 | 0.0161 | 30 | c.88+ others(49): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 43083321 | T | TGTATATA others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0044 | 1 | 62 | 0.0161 | 30 | c.88+ others(49): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTPRZ1_chr7_121868161_122067036 | 122023747 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 | 1 | 312 | 0.0032 | 30 | c.498 others(49): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PTPRZ1_chr7_121868161_122067036 | 122023757 | A | AATGTATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
a0004a0007 | a0004c0008a0007c0037 | a0004c0008t0002a0004c0008t0003a0004c0008t0004others(1): Show | a0004c0008t0002g0036a0004c0008t0002g0046a0004c0008t0003g0205others(3): Show | 6 | 312 | 0.0192 | 30 | c.498 others(49): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PTTG1IP_chr21_44844598_44878690 | 44863122 | A | ACAGAGAC others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0026 | a0001c0001t0007g0008a0001c0001t0007g0052a0001c0001t0007g0258others(11): Show | 19 | 444 | 0.0428 | 30 | c.169 others(47): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44863122 | A | ACAGAGAC others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0020others(58): Show | 95 | 444 | 0.2140 | 30 | c.169 others(47): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972274 | A | AAGGGGAG others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19011.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089a0001c0001t0003g0150a0001c0001t0003g0213 | 3 | 334 | 0.0090 | 30 | c.150 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972279 | A | AAGGGGAG others(23): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0160 | 1 | 334 | 0.0030 | 30 | c.150 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0176 | 1 | 334 | 0.0030 | 30 | c.364 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 334 | 0.0030 | 30 | c.364 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137a0001c0001t0002g0267 | 2 | 334 | 0.0060 | 30 | c.364 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 334 | 0.0030 | 30 | c.364 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 334 | 0.0030 | 30 | c.364 others(49): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUM2_chr2_20243737_20355844 | 20264367 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 358 | 0.0028 | 30 | c.195 others(47): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | ||||||
| PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0104a0001c0001t0001g0165a0001c0001t0001g0212others(1): Show | 4 | 358 | 0.0112 | 30 | c.195 others(49): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | ||||||
| PUM2_chr2_20243737_20355844 | 20355550 | G | GATTAACA others(23): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 358 | 0.0028 | 30 | c.-49 others(41): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 4707 | chr2 | TogoVar | ||||||
| PUS7L_chr12_43713992_43763790 | 43718807 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0028 | 1 | 306 | 0.0033 | 30 | c.*11 others(43): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 184 | chr12 | TogoVar | ||||||
| PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0056others(4): Show | 7 | 350 | 0.0200 | 30 | c.*21 others(41): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PUS7_chr7_105451503_105527271 | 105456076 | A | AAAAAATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 350 | 0.0029 | 30 | c.*17 others(41): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 426 | chr7 | TogoVar | ||||||
| PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056a0001c0001t0002g0310 | 2 | 350 | 0.0057 | 30 | c.*16 others(41): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | ||||||
| PVR_chr19_44638910_44671162 | 44667953 | T | TATAATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02630.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0105a0001c0001t0106a0003c0003t0115 | a0001c0001t0105g0099a0001c0001t0106g0098a0003c0003t0115g0033 | 3 | 412 | 0.0073 | 30 | c.*61 others(41): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1792 | chr19 | TogoVar | ||||||
| PWWP2A_chr5_160086339_160124450 | 160092013 | G | GATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp2 NA18612.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0018 | a0001c0001t0018g0021a0001c0003t0018g0278 | 2 | 384 | 0.0052 | 30 | c.*36 others(39): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 2/2 | 368 | chr5 | TogoVar | |||||
| PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(23): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0178 | 1 | 374 | 0.0027 | 30 | c.-46 others(41): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51608002 | G | GAAGAAAG others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0035 | 1 | 122 | 0.0082 | 30 | c.237 others(49): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51644318 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18948.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0093a0002c0002t0001g0053 | 2 | 122 | 0.0164 | 30 | c.236 others(49): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51683164 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0005 | a0005c0028 | a0005c0028t0001 | a0005c0028t0001g0083 | 1 | 122 | 0.0082 | 30 | c.165 others(49): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51733812 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 122 | 0.0082 | 30 | c.164 others(49): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1711013 | T | TCTCCACC others(23): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0008others(3): Show | a0001c0001t0001g0194a0001c0002t0003g0131a0001c0003t0008g0305others(3): Show | 6 | 322 | 0.0186 | 30 | c.201 others(49): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0128 | 1 | 388 | 0.0026 | 30 | c.113 others(47): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
| PXYLP1_chr3_141226825_141299924 | 141248620 | C | CACACACG others(23): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 384 | 0.0026 | 30 | c.-53 others(49): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXYLP1_chr3_141226825_141299924 | 141248659 | A | ATATATAC others(23): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 384 | 0.0026 | 30 | c.-53 others(49): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PYDC2_chr3_191456163_191466456 | 191463020 | C | CTTTCTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 NA18980.hp1 NA18987.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 6 | 434 | 0.0138 | 30 | c.*15 others(41): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | ||||||
| PZP_chr12_9143840_9213395 | 9185790 | A | ATTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01070.hp1 others(23): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0026a0003c0022others(7): Show | a0001c0001t0001a0001c0026t0001a0003c0022t0001others(7): Show | a0001c0001t0001g0028a0001c0026t0001g0034a0001c0026t0001g0126others(21): Show | 26 | 334 | 0.0778 | 30 | c.154 others(49): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 13/35 | chr12 | TogoVar | ||||||
| QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0027a0001c0003t0001g0144a0001c0003t0001g0146others(8): Show | 12 | 442 | 0.0272 | 30 | c.120 others(47): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| QRFPR_chr4_121323642_121386018 | 121323977 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02258.hp1 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0353a0003c0004t0006g0355 | 2 | 384 | 0.0052 | 30 | c.*53 others(41): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 4664 | chr4 | TogoVar | ||||||
| QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0331a0002c0002t0004g0330 | 2 | 384 | 0.0052 | 30 | c.340 others(45): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar |