| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FSCN2_chr17_81523377_81542130 | 81535278 | CCCACCAT others(245): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0070a0001c0002t0005g0076 | 2 | 432 | 0.0046 | -252 | c.983 others(14): Show |
FSCN2 | ENSG00000186765.12 | transcript | ENST00000417245.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GALNS_chr16_88808734_88861947 | 88831205 | CGAGGAGA others(245): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0005 | a0005c0017 | a0005c0017t0015 | a0005c0017t0015g0130 | 1 | 404 | 0.0025 | -252 | c.100 others(17): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
| GPSM1_chr9_136322539_136364601 | 136355126 | TAGGGGTA others(245): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA19009.hp2 |
a0001 | a0001c0011 | a0001c0011t0013 | a0001c0011t0013g0033a0001c0011t0013g0036 | 2 | 400 | 0.0050 | -252 | c.145 others(17): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GRIN2A_chr16_9748408_10187428 | 9848683 | TTTTAAAT others(245): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0022a0001c0001t0030others(5): Show | a0001c0001t0003g0048a0001c0001t0022g0153a0001c0001t0030g0005others(5): Show | 8 | 168 | 0.0476 | -252 | c.132 others(18): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45373567 | TTATATAC others(245): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02886.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0051a0001c0001t0002g0015a0001c0001t0002g0049others(7): Show | 10 | 226 | 0.0443 | -252 | c.123 others(21): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1038753 | GTGTCCCC others(245): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0100 | 6 | 438 | 0.0137 | -252 | c.*21 others(11): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 665 | chr10 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1038816 | GTGTCCCC others(245): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 438 | 0.0023 | -252 | c.*21 others(11): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 602 | chr10 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1366839 | CGTGAGCC others(245): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 115 | 0.0087 | -252 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| KCNIP4_chr4_20723606_21953772 | 21714797 | TTATTTTA others(245): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0004 | a0001c0001t0009g0057a0001c0004t0004g0058 | 2 | 80 | 0.0250 | -252 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| LRCH3_chr3_197786254_197893436 | 197877043 | CTCACCGC others(245): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0057 | a0001c0001t0021g0039a0001c0001t0021g0082a0001c0001t0057g0083 | 3 | 292 | 0.0103 | -252 | c.220 others(19): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LRCH3_chr3_197786254_197893436 | 197877187 | TTCACCGC others(245): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0041 | 1 | 292 | 0.0034 | -252 | c.220 others(19): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186377 | AACAGCGA others(245): Show |
A | downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 350 | 0.0029 | -252 | c.*25 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2612 | chr16 | TogoVar | ||||||
| LY6E_chr8_143013529_143027409 | 143015149 | AAGGAGTC others(245): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 377 | 0.0027 | -252 | c.-34 others(11): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3379 | chr8 | TogoVar | ||||||
| LYRM4_chr6_5103419_5265950 | 5135057 | GCTCCCGG others(245): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01081.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0054a0001c0001t0001g0092a0001c0001t0001g0100others(12): Show | 15 | 286 | 0.0525 | -252 | c.208 others(19): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
| MELTF_chr3_196996740_197034817 | 197030146 | GCACAGCT others(245): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02056.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0015 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0135a0001c0001t0001g0182a0001c0002t0001g0126others(4): Show | 7 | 420 | 0.0167 | -252 | c.-69 others(9): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 330 | chr3 | TogoVar | ||||||
| MGAM_chr7_141990879_142111747 | 142044629 | TATACACG others(245): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02055.hp1 others(10): Show |
a0001a0009a0012others(2): Show | a0001c0015a0001c0039a0001c0041others(6): Show | a0001c0015t0001a0001c0039t0003a0001c0041t0001others(6): Show | a0001c0015t0001g0312a0001c0039t0003g0040a0001c0039t0003g0307others(10): Show | 13 | 316 | 0.0411 | -252 | c.249 others(19): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237544416 | TCGGGGGA others(245): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02723.hp1 others(1): Show |
a0003a0015 | a0003c0003a0015c0024 | a0003c0003t0001a0003c0003t0005a0015c0024t0005 | a0003c0003t0001g0229a0003c0003t0005g0136a0003c0003t0005g0242others(1): Show | 4 | 286 | 0.0140 | -252 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
| MRPS9_chr2_105033069_105104960 | 105054579 | ACCCCTTT others(245): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 394 | 0.0025 | -252 | c.315 others(17): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NLRP3_chr1_247411173_247453817 | 247433722 | GTCAGGTG others(245): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02523.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0086a0001c0001t0001g0355a0001c0003t0001g0010others(18): Show | 23 | 440 | 0.0523 | -252 | c.232 others(17): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NPIPB11_chr16_29376310_29411711 | 29381850 | CGGAAGGT others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG00597.hp2 HG00609.hp2 HG02055.hp1 others(18): Show |
a0016a0020a0023others(7): Show | a0016c0016a0020c0020a0023c0098others(8): Show | a0016c0016t0001a0020c0020t0010a0020c0020t0028others(10): Show | a0016c0016t0001g0084a0016c0016t0001g0085a0016c0016t0001g0087others(16): Show | 21 | 428 | 0.0491 | -252 | c.283 others(9): Show |
p.Lys others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5828/6369 | 2830/3486 | 944/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381875 | CGCTGAGG others(245): Show |
C | disruptive_inframe_deletion | MODERATE | HG02258.hp2 HG02559.hp1 HG02818.hp2 |
a0023a0066a0075 | a0023c0110a0066c0092a0075c0100 | a0023c0110t0002a0066c0092t0007a0075c0100t0002 | a0023c0110t0002g0312a0066c0092t0007g0040a0075c0100t0002g0313 | 3 | 428 | 0.0070 | -252 | c.280 others(9): Show |
p.Asp others(14): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5803/6369 | 2805/3486 | 935/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29381976 | CGGAAGGT others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG03490.hp1 HG03492.hp2 |
a0036 | a0036c0041 | a0036c0041t0002 | a0036c0041t0002g0241a0036c0041t0002g0243 | 2 | 428 | 0.0047 | -252 | c.270 others(9): Show |
p.Lys others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5702/6369 | 2704/3486 | 902/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29382284 | TCCCCGCA others(245): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00597.hp2 HG00642.hp1 others(13): Show |
a0022a0025a0044others(8): Show | a0022c0023a0025c0021a0044c0043others(8): Show | a0022c0023t0002a0025c0021t0001a0044c0043t0001others(8): Show | a0022c0023t0002g0015a0022c0023t0002g0291a0025c0021t0001g0003others(10): Show | 16 | 428 | 0.0374 | -252 | c.239 others(9): Show |
p.Gly others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5394/6369 | 2396/3486 | 799/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383169 | TGCAGATG others(245): Show |
T | disruptive_inframe_deletion | MODERATE | HG01069.hp1 HG01071.hp1 |
a0033 | a0033c0049 | a0033c0049t0003 | a0033c0049t0003g0018 | 2 | 428 | 0.0047 | -252 | c.151 others(9): Show |
p.Arg others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4509/6369 | 1511/3486 | 504/1161 | chr16 | TogoVar | ||
| NPIPB11_chr16_29376310_29411711 | 29383311 | TTGTCTTG others(245): Show |
T | conservative_inframe_deletion | MODERATE | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(3): Show |
a0037a0038a0090others(1): Show | a0037c0033a0038c0034a0090c0066others(1): Show | a0037c0033t0001a0038c0034t0029a0038c0034t0030others(2): Show | a0037c0033t0001g0009a0038c0034t0029g0378a0038c0034t0030g0379others(2): Show | 6 | 428 | 0.0140 | -252 | c.136 others(9): Show |
p.Pro others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4367/6369 | 1369/3486 | 457/1161 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30223817 | CCCGCAGA others(245): Show |
C | conservative_inframe_deletion | MODERATE | NA18942.hp1 NA19000.hp1 |
a0011 | a0011c0014 | a0011c0014t0003a0011c0014t0004 | a0011c0014t0003g0100a0011c0014t0004g0010 | 2 | 145 | 0.0138 | -252 | c.237 others(9): Show |
p.Arg others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5371/6292 | 2377/3417 | 793/1138 | chr16 | TogoVar | ||
| NPIPB13_chr16_30217897_30253479 | 30224080 | TCGGCAGG others(245): Show |
T | disruptive_inframe_deletion | MODERATE | HG02074.hp2 | a0042 | a0042c0053 | a0042c0053t0004 | a0042c0053t0004g0004 | 1 | 145 | 0.0069 | -252 | c.211 others(9): Show |
p.Gly others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5108/6292 | 2114/3417 | 705/1138 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21835108 | GGCTGAGG others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG01074.hp1 HG01099.hp2 others(18): Show |
a0010a0011a0012others(8): Show | a0010c0011a0011c0012a0012c0013others(8): Show | a0010c0011t0001a0011c0012t0001a0012c0013t0001others(8): Show | a0010c0011t0001g0002a0010c0011t0001g0138a0010c0011t0001g0163others(17): Show | 21 | 204 | 0.1029 | -252 | c.302 others(9): Show |
p.Asp others(15): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3493/4020 | 3027/3669 | 1009/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836536 | GTTATCAT others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG01496.hp1 NA18980.hp1 |
a0024a0043 | a0024c0081a0043c0033 | a0024c0081t0001a0043c0033t0001 | a0024c0081t0001g0024a0043c0033t0001g0125 | 2 | 204 | 0.0098 | -252 | c.159 others(9): Show |
p.Ile others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2065/4020 | 1599/3669 | 533/1222 | chr16 | TogoVar | ||
| NPIPB4_chr16_21829582_21862756 | 21836773 | GGCAGGTG others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG02155.hp2 HG02451.hp2 others(3): Show |
a0024a0027a0049others(3): Show | a0024c0076a0027c0069a0049c0043others(3): Show | a0024c0076t0001a0027c0069t0001a0049c0043t0001others(3): Show | a0024c0076t0001g0038a0027c0069t0001g0014a0049c0043t0001g0011others(3): Show | 6 | 204 | 0.0294 | -252 | c.136 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1828/4020 | 1362/3669 | 454/1222 | chr16 | TogoVar | ||
| NPIPB5_chr16_22505891_22541535 | 22534848 | CGATGATA others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG00438.hp2 NA18948.hp1 |
a0004a0015 | a0004c0009a0015c0014 | a0004c0009t0001a0015c0014t0001 | a0004c0009t0001g0027a0015c0014t0001g0029 | 2 | 47 | 0.0426 | -252 | c.198 others(9): Show |
p.Glu others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4898/6463 | 1987/3402 | 663/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22534970 | GAGCGGAT others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG03927.hp2 | a0010 | a0010c0032 | a0010c0032t0003 | a0010c0032t0003g0015 | 1 | 47 | 0.0213 | -252 | c.228 others(9): Show |
p.Phe others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5197/6463 | 2286/3402 | 762/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB5_chr16_22505891_22541535 | 22535584 | GGAGCGTC others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00621.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0034 | 1 | 47 | 0.0213 | -252 | c.276 others(9): Show |
p.Asp others(14): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5671/6463 | 2760/3402 | 920/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| OTUD7A_chr15_31470398_31875673 | 31510559 | TACATATG others(245): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0086 | a0001c0004t0010g0210a0001c0004t0086g0230 | 2 | 244 | 0.0082 | -252 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PADI1_chr1_17200128_17251007 | 17241503 | AGTCGGAA others(245): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02630.hp2 others(4): Show |
a0001a0013 | a0001c0001a0001c0005a0013c0019 | a0001c0001t0005a0001c0005t0005a0013c0019t0024 | a0001c0001t0005g0031a0001c0001t0005g0058a0001c0001t0005g0299others(4): Show | 7 | 406 | 0.0172 | -252 | c.175 others(18): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69300589 | CCTTCTTT others(245): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0267 | 1 | 284 | 0.0035 | -252 | c.-27 others(19): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
| PAQR5_chr15_69293912_69412780 | 69300648 | TCTTTTCT others(245): Show |
T | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0272 | 1 | 284 | 0.0035 | -252 | c.-27 others(19): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PHF2_chr9_93571584_93684587 | 93671960 | TCAGGTGT others(245): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(15): Show | 18 | 350 | 0.0514 | -252 | c.234 others(19): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 165914 | GCTCTGAC others(245): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0030 | a0030c0047 | a0030c0047t0131 | a0030c0047t0131g0067 | 1 | 210 | 0.0048 | -252 | c.347 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PRB3_chr12_11260914_11274707 | 11267466 | TGGGGGAC others(245): Show |
T | disruptive_inframe_deletion | MODERATE | HG02895.hp2 | a0034 | a0034c0046 | a0034c0046t0002 | a0034c0046t0002g0069 | 1 | 443 | 0.0023 | -252 | c.531 others(7): Show |
p.Pro others(13): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 820/1227 | 531/1056 | 177/351 | chr12 | TogoVar | ||
| PRDM16_chr1_3064203_3443621 | 3303817 | CGTGGGCT others(245): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0200 | 1 | 210 | 0.0048 | -252 | c.438 others(19): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM9_chr5_23502609_23533093 | 23526806 | TACACACA others(245): Show |
T | conservative_inframe_deletion | MODERATE | NA18947.hp1 NA18961.hp1 NA19066.hp1 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0002 | 4 | 424 | 0.0094 | -252 | c.185 others(9): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2043/3193 | 1855/2685 | 619/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PRDM9_chr5_23502609_23533093 | 23527214 | CTCACCAG others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG03195.hp2 | a0036 | a0036c0041 | a0036c0041t0001 | a0036c0041t0001g0067 | 1 | 424 | 0.0024 | -252 | c.227 others(9): Show |
p.Asp others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2463/3193 | 2275/2685 | 759/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PRKCA_chr17_66297613_66815743 | 66799373 | GTGGTGGT others(245): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0117 | 1 | 178 | 0.0056 | -252 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113161840 | GTCCCCCC others(245): Show |
G | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0083 | 2 | 378 | 0.0053 | -252 | c.259 others(15): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113161972 | ACATCCTC others(245): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0080a0001c0001t0001g0081others(2): Show | 10 | 378 | 0.0265 | -252 | c.260 others(16): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PTMA_chr2_231703525_231718551 | 231715784 | ACTGGACT others(245): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 3 | 392 | 0.0077 | -252 | c.*29 others(11): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2234 | chr2 | TogoVar | ||||||
| RAPGEF1_chr9_131571775_131745076 | 131586969 | CACACACA others(245): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03579.hp1 NA18522.hp2 |
a0001 | a0001c0006 | a0001c0006t0014a0001c0006t0031 | a0001c0006t0014g0042a0001c0006t0014g0043a0001c0006t0031g0051 | 3 | 368 | 0.0082 | -252 | c.323 others(17): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7008882 | CTCCCTTC others(245): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0039a0001c0001t0008g0034 | 2 | 68 | 0.0294 | -252 | c.-15 others(19): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RIMBP2_chr12_130391133_130721299 | 130646094 | TCCACCTC others(245): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02683.hp1 HG02683.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0030a0001c0002t0002g0017a0001c0003t0001g0163others(5): Show | 8 | 180 | 0.0444 | -252 | c.-35 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar |