| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCGF3_chr4_700832_775089 | 744814 | CCGGGGGT others(390): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0022 | 1 | 366 | 0.0027 | -397 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746123 | CCCGGGGG others(390): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 366 | 0.0027 | -397 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RAB19_chr7_140399058_140432974 | 140405900 | CCAGATAA others(390): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 1 | 442 | 0.0023 | -397 | c.-23 others(17): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3031505 | GTCCCTTT others(390): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0086 | a0001c0007t0086g0012 | 1 | 218 | 0.0046 | -397 | c.218 others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SARDH_chr9_133658560_133743352 | 133668678 | TCCCCTCA others(390): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0249 | 1 | 262 | 0.0038 | -397 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| TFDP1_chr13_113579753_113646473 | 113593149 | TGTGCTGT others(390): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 348 | 0.0029 | -397 | c.12+ others(15): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TNFRSF10B_chr8_23015133_23074031 | 23057058 | CGGAGTCT others(390): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 |
a0002a0011 | a0002c0002a0011c0011 | a0002c0002t0015a0011c0011t0006 | a0002c0002t0015g0010a0011c0011t0006g0312 | 2 | 384 | 0.0052 | -397 | c.144 others(19): Show |
TNFRSF10B | ENSG00000120889.13 | transcript | ENST00000276431.9 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 898611 | TGGGGAAA others(390): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 402 | 0.0025 | -397 | c.388 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| UGGT1_chr2_128086200_128200677 | 128142314 | GGTGGCTC others(390): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0089a0001c0001t0001g0107a0001c0001t0001g0134others(1): Show | 4 | 332 | 0.0121 | -397 | c.172 others(17): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 16/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288791 | TCCCCCGT others(389): Show |
T | downstream_gene_variant | MODIFIER | NA18955.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0011a0001c0001t0013g0128 | 2 | 295 | 0.0068 | -396 | c.*43 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3599 | chr1 | TogoVar | ||||||
| ADAMTS12_chr5_33518535_33896990 | 33849298 | ATATATAT others(389): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG03486.hp1 |
a0003a0009a0031 | a0003c0005a0009c0045a0031c0044 | a0003c0005t0006a0009c0045t0008a0031c0044t0024 | a0003c0005t0006g0086a0009c0045t0008g0085a0031c0044t0024g0087 | 3 | 224 | 0.0134 | -396 | c.489 others(19): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
| ANK2_chr4_113044653_113388736 | 113064718 | TTGTTAGA others(389): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02647.hp1 HG03239.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0004t0001a0003c0006t0002 | a0001c0001t0001g0110a0001c0001t0001g0178a0001c0004t0001g0177others(1): Show | 4 | 178 | 0.0225 | -396 | c.84+ others(17): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 980100 | CTGCCCGG others(389): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp1 others(33): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0003a0001c0003t0008a0001c0005t0003others(2): Show | a0001c0002t0003g0001a0001c0002t0003g0002a0001c0002t0003g0137others(33): Show | 36 | 268 | 0.1343 | -396 | c.604 others(16): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP3D1_chr19_2095988_2156566 | 2128520 | GACACTGC others(389): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 406 | 0.0025 | -396 | c.806 others(15): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112766828 | GATGTGGG others(389): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0047a0001c0013t0004 | a0001c0001t0001g0150a0001c0002t0047g0112a0001c0013t0004g0035others(2): Show | 5 | 254 | 0.0197 | -396 | c.40- others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | chr13 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1412070 | CGGTGGGT others(389): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0049 | a0002c0002t0049g0117 | 1 | 360 | 0.0028 | -396 | c.91+ others(17): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1412121 | CAGCTGCG others(389): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0228a0001c0001t0004g0121 | 2 | 360 | 0.0056 | -396 | c.91+ others(17): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBLC_chr19_44772890_44805652 | 44800857 | TCCAGCCC others(389): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG03139.hp2 HG06807.hp1 |
a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0032a0000c0002t0001g0049a0000c0002t0001g0063 | 3 | 344 | 0.0087 | -396 | c.*31 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 206 | chr19 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44800942 | TCCTCAGA others(389): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp2 HG03225.hp1 others(3): Show |
a0000a0001a0003 | a0000c0007a0001c0006a0003c0005 | a0000c0007t0001a0001c0006t0001a0003c0005t0001 | a0000c0007t0001g0014a0000c0007t0001g0042a0000c0007t0001g0046others(2): Show | 6 | 344 | 0.0174 | -396 | c.*40 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 291 | chr19 | TogoVar | ||||||
| CEL_chr9_133056981_133076861 | 133071216 | CCCCCCAC others(389): Show |
C | disruptive_inframe_deletion | MODERATE | HG03098.hp2 | a0033 | a0033c0239 | a0033c0239t0001 | a0033c0239t0001g0091 | 1 | 416 | 0.0024 | -396 | c.177 others(9): Show |
p.Val others(13): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1798/2381 | 1776/2262 | 592/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CFAP46_chr10_132803392_132947570 | 132914061 | GCCCGAGG others(389): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01169.hp1 others(3): Show |
a0002a0025a0046others(2): Show | a0002c0002a0025c0033a0046c0064others(2): Show | a0002c0002t0001a0025c0033t0003a0046c0064t0001others(2): Show | a0002c0002t0001g0195a0002c0002t0001g0203a0025c0033t0003g0237others(3): Show | 6 | 246 | 0.0244 | -396 | c.212 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132914193 | GCCCGAGG others(389): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA18950.hp1 |
a0001a0004a0058 | a0001c0001a0004c0005a0058c0090 | a0001c0001t0002a0004c0005t0001a0058c0090t0002 | a0001c0001t0002g0029a0004c0005t0001g0225a0058c0090t0002g0043 | 3 | 246 | 0.0122 | -396 | c.212 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148890 | ACCTCGGT others(389): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | -396 | c.-49 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713562 | CCCTCACT others(389): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0054 | a0001c0001t0005g0052a0001c0001t0054g0109 | 2 | 412 | 0.0049 | -396 | c.*32 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1004 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713899 | CACCCTTC others(389): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 3 | 412 | 0.0073 | -396 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 667 | chr19 | TogoVar | ||||||
| FRYL_chr4_48492357_48785279 | 48659522 | AGGGAGAA others(389): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA18957.hp1 NA18959.hp1 others(1): Show |
a0002a0005a0012 | a0002c0004a0005c0009a0012c0019 | a0002c0004t0009a0005c0009t0001a0012c0019t0001 | a0002c0004t0009g0212a0005c0009t0001g0048a0005c0009t0001g0049others(1): Show | 4 | 282 | 0.0142 | -396 | c.-81 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
| FRYL_chr4_48492357_48785279 | 48659523 | GGGAGAAG others(389): Show |
G | intron_variant | MODIFIER | NA18963.hp1 NA18975.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0039a0001c0002t0001g0040a0001c0002t0001g0111others(1): Show | 4 | 282 | 0.0142 | -396 | c.-81 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
| GALNS_chr16_88808734_88861947 | 88831234 | TGCGTGGG others(389): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0017 | a0005c0017t0016 | a0005c0017t0016g0391 | 1 | 404 | 0.0025 | -396 | c.100 others(17): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | ||||||
| IGDCC3_chr15_65322127_65383002 | 65326077 | ACCCAGGC others(389): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0158 | 2 | 314 | 0.0064 | -396 | c.*24 others(11): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 1049 | chr15 | TogoVar | ||||||
| KBTBD11_chr8_1968677_2011936 | 1990345 | TGGGCCTT others(389): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 389 | 0.0026 | -396 | c.-90 others(19): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KCNIP4_chr4_20723606_21953772 | 20931887 | GAGTCTAA others(389): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0060a0001c0001t0001g0068others(4): Show | 7 | 80 | 0.0875 | -396 | c.62- others(17): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139677608 | AGCTGCAG others(389): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295a0001c0001t0001g0297 | 2 | 322 | 0.0062 | -396 | c.283 others(19): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113067916 | AGCTGGAG others(389): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0004a0001c0001t0002g0048a0001c0001t0023g0018others(2): Show | 5 | 116 | 0.0431 | -396 | c.881 others(17): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MCF2L_chr13_112964214_113104742 | 113068265 | CGGAGGCA others(389): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0093 | 2 | 116 | 0.0172 | -396 | c.882 others(17): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(389): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 294 | 0.0034 | -396 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149300 | CGCCGCCT others(389): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 294 | 0.0034 | -396 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45924744 | CGAGGAGA others(389): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 292 | 0.0034 | -396 | c.718 others(17): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45924762 | GGGAACGG others(389): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0098 | 2 | 292 | 0.0069 | -396 | c.718 others(17): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746124 | CCGGGGGT others(389): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 366 | 0.0027 | -396 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PLIN4_chr19_4497192_4523486 | 4511239 | GTTCACAG others(389): Show |
G | disruptive_inframe_deletion | MODERATE | HG02818.hp1 | a0113 | a0113c0066 | a0113c0066t0027 | a0113c0066t0027g0082 | 1 | 412 | 0.0024 | -396 | c.232 others(9): Show |
p.Lys others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2839/6502 | 2325/4116 | 775/1371 | chr19 | TogoVar | ||
| PLIN4_chr19_4497192_4523486 | 4511322 | CGGCCCCT others(389): Show |
C | conservative_inframe_deletion | MODERATE | HG03130.hp1 | a0058 | a0058c0125 | a0058c0125t0004 | a0058c0125t0004g0300 | 1 | 412 | 0.0024 | -396 | c.224 others(9): Show |
p.Ile others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2756/6502 | 2242/4116 | 748/1371 | chr19 | TogoVar | ||
| PLIN4_chr19_4497192_4523486 | 4511338 | TTTCGCAG others(389): Show |
T | disruptive_inframe_deletion | MODERATE | HG01978.hp2 HG02055.hp1 HG04199.hp2 others(1): Show |
a0061a0069a0072others(1): Show | a0061c0118a0069c0106a0072c0100others(1): Show | a0061c0118t0001a0069c0106t0001a0072c0100t0001others(1): Show | a0061c0118t0001g0236a0069c0106t0001g0136a0072c0100t0001g0130others(1): Show | 4 | 412 | 0.0097 | -396 | c.222 others(9): Show |
p.Asn others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2740/6502 | 2226/4116 | 742/1371 | chr19 | TogoVar | ||
| PLIN4_chr19_4497192_4523486 | 4511910 | TCTGGGCA others(389): Show |
T | conservative_inframe_deletion | MODERATE | HG03130.hp1 HG04199.hp2 |
a0058a0072 | a0058c0125a0072c0100 | a0058c0125t0004a0072c0100t0001 | a0058c0125t0004g0300a0072c0100t0001g0130 | 2 | 412 | 0.0049 | -396 | c.165 others(9): Show |
p.Gly others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2168/6502 | 1654/4116 | 552/1371 | chr19 | TogoVar | ||
| PLIN4_chr19_4497192_4523486 | 4512624 | AATTCATG others(389): Show |
A | conservative_inframe_deletion | MODERATE | HG00639.hp2 HG00735.hp2 HG01109.hp1 others(39): Show |
a0009a0014a0015others(19): Show | a0009c0008a0014c0038a0014c0040others(26): Show | a0009c0008t0001a0009c0008t0004a0009c0008t0023others(31): Show | a0009c0008t0001g0025a0009c0008t0004g0026a0009c0008t0004g0054others(34): Show | 42 | 412 | 0.1019 | -396 | c.940 others(8): Show |
p.Val others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 1454/6502 | 940/4116 | 314/1371 | chr19 | TogoVar | ||
| RAB3GAP1_chr2_135047292_135175710 | 135089080 | AAGGGGTC others(389): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 280 | 0.0036 | -396 | c.151 others(17): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000382 | ATGGGGCT others(389): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0019a0001c0001t0023a0001c0001t0026others(45): Show | a0001c0001t0019g0043a0001c0001t0023g0047a0001c0001t0026g0188others(52): Show | 55 | 218 | 0.2523 | -396 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000602 | AATCAGCC others(389): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 218 | 0.0046 | -396 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000737 | ACAGAAGA others(389): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01358.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0013a0001c0002t0005a0001c0002t0010others(13): Show | a0001c0001t0013g0193a0001c0002t0005g0157a0001c0002t0010g0149others(14): Show | 17 | 218 | 0.0780 | -396 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000800 | AATCAGCC others(389): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0001c0026a0002c0008 | a0001c0001t0070a0001c0026t0087a0002c0008t0001 | a0001c0001t0070g0057a0001c0026t0087g0094a0002c0008t0001g0083 | 3 | 218 | 0.0138 | -396 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000866 | ACCAGGCT others(389): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0008 | a0002c0008t0036 | a0002c0008t0036g0058 | 1 | 218 | 0.0046 | -396 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |