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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTRHD1_chr2_24784728_24798391 | 24785585 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0027 others(2): Show |
48 | 183 | 0.2623 | -7 | c.*48 others(18): Show |
PTRHD1 | ENSG00000184924.6 | transcript | ENST00000328379.6 | protein_coding | 4142 | chr2 | TogoVar | |||||||
PUDP_chrX_7043920_7153153 | 7061506 | AGAAGAAG | A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0003 | a0001c0002t0003g0018 a0001c0002t0003g0025 a0001c0002t0003g0026 others(5): Show |
8 | 258 | 0.0310 | -7 | c.511 others(26): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 3/3 | chrX | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30952672 | AGCGGGGG | A | intron_variant | MODIFIER | HG00642.hp2 HG02155.hp1 NA18952.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 others(6): Show |
9 | 284 | 0.0317 | -7 | c.259 others(24): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 15/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30999606 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0240 a0001c0001t0001g0299 others(46): Show |
50 | 54 | 0.9259 | -7 | c.721 others(24): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 5/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31056609 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01081.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0194 a0001c0001t0001g0265 a0001c0001t0002g0096 others(30): Show |
34 | 35 | 0.9714 | -7 | c.363 others(24): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM3_chr9_2799152_2849095 | 2816114 | GCTGAAGA | G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02896.hp2 others(3): Show |
a0001a0010a0017 | a0001c0005a0010c0015a0017c0025 | a0001c0005t0001a0010c0015t0004a0010c0015t0005others(1): Show | a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 others(3): Show |
6 | 418 | 0.0144 | -7 | c.127 others(26): Show |
PUM3 | ENSG00000080608.10 | transcript | ENST00000397885.3 | protein_coding | 13/17 | chr9 | TogoVar | |||||||
PUS10_chr2_60935223_61023255 | 60956974 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0229 a0001c0001t0002g0230 others(1): Show |
5 | 184 | 0.0272 | -7 | c.100 others(26): Show |
PUS10 | ENSG00000162927.14 | transcript | ENST00000316752.11 | protein_coding | 11/17 | chr2 | TogoVar | |||||||
PUS3_chr11_125888485_125908206 | 125889931 | CTGTTTAT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(207): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0014a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(52): Show |
210 | 448 | 0.4688 | -7 | c.*38 others(18): Show |
PUS3 | ENSG00000110060.9 | transcript | ENST00000227474.8 | protein_coding | 3553 | chr11 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718808 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01943.hp1 NA18946.hp2 others(1): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0004a0002c0002t0005a0007c0006t0002 | a0002c0002t0004g0003 a0002c0002t0004g0138 a0002c0002t0005g0106 others(1): Show |
4 | 285 | 0.0140 | -7 | c.*11 others(20): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 183 | chr12 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43758666 | CACACACA | C | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02976.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0003a0002c0002t0026a0006c0008t0029 | a0002c0002t0003g0188 a0002c0002t0026g0186 a0006c0008t0029g0195 others(1): Show |
4 | 204 | 0.0196 | -7 | c.-17 others(20): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105471940 | ATATAAAT | A | intron_variant | MODIFIER | HG01934.hp1 HG02027.hp1 HG02155.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0106 others(14): Show |
17 | 348 | 0.0489 | -7 | c.123 others(24): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 10/15 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105501966 | AAAAATAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0017 a0001c0001t0001g0152 a0001c0001t0002g0300 others(17): Show |
20 | 348 | 0.0575 | -7 | c.730 others(22): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105501968 | AAATATAT | A | intron_variant | MODIFIER | NA18945.hp2 NA18950.hp1 NA18955.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 others(10): Show |
13 | 152 | 0.0855 | -7 | c.730 others(22): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105512144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(17): Show |
20 | 33 | 0.6061 | -7 | c.-32 others(24): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44645068 | GTAATATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01123.hp2 others(61): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0006others(14): Show | a0002c0002t0003g0038 a0002c0002t0004g0004 a0002c0002t0004g0007 others(38): Show |
64 | 410 | 0.1561 | -7 | c.79+ others(20): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PVR_chr19_44638910_44671162 | 44668687 | AATATATT | A | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01928.hp1 HG01943.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0006 | a0001c0001t0001g0069 a0002c0002t0004g0004 a0002c0002t0004g0022 others(2): Show |
10 | 408 | 0.0245 | -7 | c.*68 others(18): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2526 | chr19 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109769 | AAAAAAAT | A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0287 a0001c0001t0003g0237 a0001c0001t0005g0313 others(9): Show |
12 | 340 | 0.0353 | -7 | c.584 others(24): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109771 | AAAAATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0016 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0214 a0001c0001t0005g0294 a0001c0001t0010g0280 others(3): Show |
6 | 353 | 0.0170 | -7 | c.584 others(24): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51536373 | TATGCTTA | T | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0003a0013others(4): Show | a0001c0001a0003c0003a0013c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(5): Show | a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 others(8): Show |
11 | 120 | 0.0917 | -7 | c.380 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51543710 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02615.hp1 others(5): Show |
a0004a0010a0027 | a0004c0004a0010c0012a0027c0022 | a0004c0004t0001a0004c0004t0003a0010c0012t0003others(1): Show | a0004c0004t0001g0037 a0004c0004t0001g0048 a0004c0004t0001g0049 others(5): Show |
8 | 83 | 0.0964 | -7 | c.380 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51544931 | TTAAGATC | T | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 |
a0002a0016 | a0002c0002a0016c0044 | a0002c0002t0001a0016c0044t0001 | a0002c0002t0001g0039 a0016c0044t0001g0061 |
2 | 120 | 0.0167 | -7 | c.380 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51621943 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01169.hp2 others(44): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0032a0001c0046others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(44): Show |
47 | 85 | 0.5529 | -7 | c.237 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51735526 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0011a0002c0002others(17): Show | a0001c0001t0001a0001c0011t0002a0001c0011t0003others(21): Show | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0034 others(36): Show |
39 | 78 | 0.5000 | -7 | c.164 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1716440 | GAAAAAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(69): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0066 a0001c0001t0001g0126 a0001c0001t0001g0162 others(69): Show |
72 | 133 | 0.5414 | -7 | c.201 others(26): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58388664 | CATCACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(192): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(187): Show |
195 | 298 | 0.6544 | -7 | c.389 others(24): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141257922 | AAAAAGAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0235 a0001c0001t0002g0134 a0001c0001t0005g0012 others(12): Show |
17 | 380 | 0.0447 | -7 | c.-53 others(24): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55534095 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0252 a0001c0001t0002g0354 a0001c0001t0004g0011 others(40): Show |
46 | 75 | 0.6133 | -7 | c.*11 others(20): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 4788 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55537267 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG01358.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0013 | a0001c0001t0008g0150 a0001c0001t0008g0361 a0002c0002t0013g0275 others(3): Show |
6 | 78 | 0.0769 | -7 | c.*87 others(18): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1616 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55589261 | GTTTTTGT | G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0033 | a0001c0001t0012g0170 a0001c0001t0012g0173 a0001c0001t0012g0174 others(3): Show |
6 | 410 | 0.0146 | -7 | c.-13 others(18): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 917 | chr15 | TogoVar | |||||||
QNG1_chr9_83933311_83961742 | 83937338 | AAAAAAAT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0028 | a0001c0001t0004g0006 a0001c0001t0004g0033 a0001c0001t0004g0104 others(6): Show |
16 | 392 | 0.0408 | -7 | c.*21 others(18): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 972 | chr9 | TogoVar | |||||||
QNG1_chr9_83933311_83961742 | 83954879 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0009a0001c0001t0026a0002c0002t0005others(2): Show | a0001c0001t0009g0034 a0001c0001t0009g0112 a0001c0001t0026g0110 others(4): Show |
11 | 205 | 0.0537 | -7 | c.597 others(22): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
QPRT_chr16_29674180_29703699 | 29690123 | CGGTATTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG02615.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(4): Show |
18 | 318 | 0.0566 | -7 | c.14- others(22): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365527 | TATATATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02080.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0025 a0001c0001t0002g0226 a0001c0001t0009g0256 |
4 | 378 | 0.0106 | -7 | c.340 others(26): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121368346 | TCCATTTA | T | intron_variant | MODIFIER | HG01255.hp1 HG01257.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0005g0079 a0001c0001t0005g0115 a0001c0001t0007g0166 others(3): Show |
6 | 382 | 0.0157 | -7 | c.340 others(26): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49096798 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show |
5 | 26 | 0.1923 | -7 | c.-29 others(18): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76297870 | GTTTTTTT | G | intron_variant | MODIFIER | HG02080.hp1 HG02129.hp2 HG02257.hp1 others(13): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0006a0004c0009others(4): Show | a0002c0002t0001a0004c0006t0002a0004c0009t0002others(4): Show | a0002c0002t0001g0280 a0004c0006t0002g0051 a0004c0006t0002g0054 others(13): Show |
16 | 83 | 0.1928 | -7 | c.706 others(24): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76306168 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0004a0009a0016 | a0004c0006a0004c0009a0004c0014others(7): Show | a0004c0006t0002a0004c0009t0002a0004c0014t0002others(7): Show | a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 others(24): Show |
28 | 147 | 0.1905 | -7 | c.535 others(24): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
QRSL1_chr6_106624578_106673417 | 106661686 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0005a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0001t0005g0305 a0001c0002t0004g0131 a0001c0002t0004g0134 others(18): Show |
26 | 38 | 0.6842 | -7 | c.116 others(26): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
R3HCC1L_chr10_98129657_98249897 | 98238576 | TGAGTTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0224 a0003c0003t0005g0225 a0003c0003t0005g0226 others(4): Show |
7 | 386 | 0.0181 | -7 | c.226 others(26): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135723778 | CAAAAAAA | C | intron_variant | MODIFIER | HG01981.hp2 HG02451.hp2 HG03688.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0035 others(5): Show |
8 | 71 | 0.1127 | -7 | c.305 others(24): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57348717 | AAAAAGAG | A | intron_variant | MODIFIER | HG00738.hp2 HG01981.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0066 a0001c0002t0002g0045 a0001c0002t0002g0062 others(6): Show |
9 | 318 | 0.0283 | -7 | c.-35 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57422093 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00738.hp1 others(43): Show |
a0001a0003a0004 | a0001c0002a0003c0007a0003c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(5): Show | a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0121 others(43): Show |
46 | 250 | 0.1840 | -7 | c.-10 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892872 | TGAGCCCC | T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp1 NA18954.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0060 a0001c0001t0002g0124 a0001c0003t0001g0266 |
3 | 429 | 0.0070 | -7 | c.*45 others(18): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3630 | chr19 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892881 | AGCCCCGC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(55): Show |
62 | 159 | 0.3899 | -7 | c.*45 others(18): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3621 | chr19 | TogoVar | |||||||
R3HDML_chr20_44332043_44356238 | 44347207 | TTTTTTTC | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0029 others(6): Show |
16 | 432 | 0.0370 | -7 | c.629 others(24): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44348468 | CTCCTTTT | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0190 others(1): Show |
5 | 432 | 0.0116 | -7 | c.630 others(24): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26140452 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0210 a0001c0001t0005g0077 a0001c0001t0005g0078 others(7): Show |
10 | 11 | 0.9091 | -7 | c.*54 others(18): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2999 | chr2 | TogoVar | |||||||
RAB11FIP1_chr8_37853618_37904497 | 37895259 | ATTTTTTT | A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp2 others(6): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0011others(1): Show | a0001c0001t0001a0002c0002t0001a0011c0011t0002others(3): Show | a0001c0001t0001g0220 a0002c0002t0001g0199 a0002c0002t0001g0209 others(6): Show |
9 | 160 | 0.0563 | -7 | c.371 others(24): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 493251 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0018 | a0001c0001t0015a0001c0002t0009a0001c0002t0019others(5): Show | a0001c0001t0015g0038 a0001c0002t0009g0040 a0001c0002t0009g0041 others(12): Show |
15 | 172 | 0.0872 | -7 | c.126 others(26): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 518704 | GACAGAGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0024a0001c0001t0057others(1): Show | a0001c0001t0015g0038 a0001c0001t0015g0122 a0001c0001t0015g0123 others(7): Show |
10 | 294 | 0.0340 | -7 | c.164 others(24): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | chr16 | TogoVar |