| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIR3DL2_chr19_54845443_54872207 | 54852574 | CTGTCCTG others(14942): Show |
C | exon_loss_variant | HIGH | HG00741.hp2 | a0000 | a0000c0032 | a0000c0032t0007 | a0000c0032t0007g0163 | 1 | 441 | 0.0023 | -14949 | c.355 others(12): Show |
KIR3DL2 | ENSG00000240403.5 | transcript | ENST00000326321.7 | protein_coding | 4/9 | chr19 | TogoVar | ||||||
| KLK15_chr19_50820289_50838574 | 50827242 | TGGGCAAC others(3387): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01099.hp2 HG03225.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0119a0007c0008t0001g0236 | 2 | 442 | 0.0045 | -3394 | c.43+ others(13): Show |
KLK15 | ENSG00000174562.14 | transcript | ENST00000598239.6 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
| KLRC3_chr12_10407315_10425595 | 10418938 | TTTATGGC others(6650): Show |
T | exon_loss_variant | HIGH | HG03209.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0034 | 1 | 448 | 0.0022 | -6657 | c.-50 others(13): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 3/7 | chr12 | TogoVar | ||||||
| KPNA7_chr7_99168572_99213115 | 99194181 | GTCACTGG others(6105): Show |
G | exon_loss_variant | HIGH | NA18940.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0153 | 1 | 334 | 0.0030 | -6112 | c.201 others(16): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
| KRBA1_chr7_149709951_149739575 | 149720179 | CCCCAGGC others(968): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA19077.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0164 | 1 | 414 | 0.0024 | -975 | c.259 others(14): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| KRT6B_chr12_52441651_52457146 | 52450881 | TTTCTTTT others(6258): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG04199.hp1 | a0016 | a0016c0026 | a0016c0026t0006 | a0016c0026t0006g0020 | 1 | 434 | 0.0023 | -6265 | c.-50 others(13): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
| KRT77_chr12_52684626_52708524 | 52692552 | CTCCAGGT others(1358): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG01069.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0010a0006c0006t0002g0107 | 8 | 420 | 0.0191 | -1365 | c.108 others(13): Show |
KRT77 | ENSG00000189182.10 | transcript | ENST00000341809.8 | protein_coding | 6/9 | 1385/3366 | chr12 | TogoVar | |||||
| KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | chr17 | TogoVar | ||
| L3MBTL2_chr22_41200312_41236271 | 41204400 | GAGAGCCT others(2535): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG00741.hp2 | a0006 | a0006c0016 | a0006c0016t0010 | a0006c0016t0010g0042 | 1 | 370 | 0.0027 | -2542 | c.-96 others(12): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 1/17 | chr22 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54350439 | AAGAAAAT others(12058): Show |
A | exon_loss_variant | HIGH | HG02280.hp2 | a0000 | a0000c0016 | a0000c0016t0033 | a0000c0016t0033g0194 | 1 | 462 | 0.0022 | -12065 | c.71- others(13): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 10/10 | chr19 | TogoVar | ||||||
| LARS2_chr3_45383576_45554407 | 45399787 | CCCTTTCC others(946): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18995.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0135 | 1 | 242 | 0.0041 | -953 | c.235 others(15): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54217418 | ACTGGAGT others(10582): Show |
A | exon_loss_variant | HIGH | NA19087.hp2 | a0025 | a0025c0079 | a0025c0079t0011 | a0025c0079t0011g0153 | 1 | 455 | 0.0022 | -10589 | c.-50 others(10): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 11/13 | 1680/2742 | chr19 | TogoVar | |||||
| LILRB3_chr19_54211278_54228007 | 54219897 | AAGGGGCT others(8103): Show |
A | exon_loss_variant | HIGH | HG00438.hp1 HG00621.hp2 HG02148.hp1 others(3): Show |
a0007 | a0007c0015 | a0007c0015t0006 | a0007c0015t0006g0018 | 6 | 455 | 0.0132 | -8110 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54220017 | GACCCCCG others(7983): Show |
G | exon_loss_variant | HIGH | HG02630.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0007 | a0007c0021a0007c0077 | a0007c0021t0014a0007c0077t0006 | a0007c0021t0014g0029a0007c0077t0006g0148 | 4 | 455 | 0.0088 | -7990 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54220028 | CTCACCAG others(7972): Show |
C | exon_loss_variant | HIGH | HG02257.hp1 HG02976.hp2 |
a0007 | a0007c0029 | a0007c0029t0011 | a0007c0029t0011g0151a0007c0029t0011g0152 | 2 | 455 | 0.0044 | -7979 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54220136 | AGAGGCCT others(7864): Show |
A | exon_loss_variant | HIGH | HG02155.hp2 | a0026 | a0026c0078 | a0026c0078t0011 | a0026c0078t0011g0154 | 1 | 455 | 0.0022 | -7871 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54220482 | GGAGCTGA others(7518): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 HG02004.hp1 HG02109.hp1 others(2): Show |
a0007 | a0007c0016 | a0007c0016t0008 | a0007c0016t0008g0030a0007c0016t0008g0149a0007c0016t0008g0150 | 5 | 455 | 0.0110 | -7525 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | chr19 | TogoVar | ||||||
| LPA_chr6_160526482_160669275 | 160613319 | TTTTTTTT others(27727): Show |
T | exon_loss_variant | HIGH | NA19043.hp2 | a0032 | a0032c0052 | a0032c0052t0001 | a0032c0052t0001g0113 | 1 | 148 | 0.0068 | -27734 | c.552 others(16): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 14/39 | chr6 | TogoVar | ||||||
| LRRC31_chr3_169834172_169874935 | 169869027 | TGCTCTTT others(4356): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02602.hp1 HG02738.hp2 HG03927.hp2 |
a0006a0007 | a0006c0010a0007c0017 | a0006c0010t0003a0007c0017t0003 | a0006c0010t0003g0026a0006c0010t0003g0028a0007c0017t0003g0027 | 3 | 322 | 0.0093 | -4363 | c.-35 others(13): Show |
LRRC31 | ENSG00000114248.10 | transcript | ENST00000316428.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| LRRC36_chr16_67321815_67390204 | 67374520 | GAGTAGCT others(2930): Show |
G | exon_loss_variant | HIGH | HG02922.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0123 | 1 | 194 | 0.0052 | -2937 | c.149 others(17): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| LY6G5B_chr6_31664976_31678546 | 31670427 | ACAAGGTC others(885): Show |
A | exon_loss_variant | HIGH | HG03490.hp2 HG03492.hp2 |
a0005 | a0005c0008 | a0005c0008t0018 | a0005c0008t0018g0005 | 2 | 415 | 0.0048 | -892 | c.-52 others(11): Show |
LY6G5B | ENSG00000240053.9 | transcript | ENST00000375864.5 | protein_coding | 2/3 | 455/2845 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| LY96_chr8_73986392_74034079 | 73986612 | GCTGGACT others(5317): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02615.hp1 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0004a0004c0003t0003g0005a0004c0003t0003g0006 | 3 | 314 | 0.0096 | -5324 | c.-48 others(13): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
| MAGEB3_chrX_30225657_30242495 | 30232727 | TGCGCCAC others(425): Show |
T | splice_acceptor_variant others(5): Show |
HIGH | NA18954.hp2 NA19006.hp1 NA19078.hp2 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0035a0003c0003t0006g0097 | 3 | 338 | 0.0089 | -432 | c.-25 others(15): Show |
MAGEB3 | ENSG00000198798.6 | transcript | ENST00000361644.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MALRD1_chr10_19043801_19739478 | 19381022 | TAGCATTA others(10803): Show |
T | exon_loss_variant | HIGH | HG02622.hp2 | a0044 | a0044c0114 | a0044c0114t0002 | a0044c0114t0002g0076 | 1 | 152 | 0.0066 | -10810 | c.444 others(19): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 27/40 | chr10 | TogoVar | ||||||
| MBL2_chr10_52760380_52777784 | 52766742 | TATTTGTA others(2725): Show |
T | exon_loss_variant | HIGH | HG02976.hp2 | a0000 | a0000c0012 | a0000c0012t0029 | a0000c0012t0029g0076 | 1 | 434 | 0.0023 | -2732 | c.305 others(13): Show |
MBL2 | ENSG00000165471.7 | transcript | ENST00000674931.1 | protein_coding | 4/5 | 2198/3561 | chr10 | TogoVar | |||||
| MBTPS1_chr16_84048763_84121942 | 84091220 | TCACGCCT others(7252): Show |
T | exon_loss_variant | HIGH | NA18995.hp2 | a0004 | a0004c0020 | a0004c0020t0002 | a0004c0020t0002g0132 | 1 | 424 | 0.0024 | -7259 | c.421 others(15): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 7/23 | chr16 | TogoVar | ||||||
| METTL21A_chr2_207607739_207630394 | 207621541 | GGGGGCAG others(1215): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18961.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0115 | 1 | 386 | 0.0026 | -1222 | c.148 others(15): Show |
METTL21A | ENSG00000144401.14 | transcript | ENST00000411432.6 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
| MGAM_chr7_141990879_142111747 | 142065551 | AGAGCCTG others(29025): Show |
A | exon_loss_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(32): Show |
a0003a0011 | a0003c0003a0003c0006a0003c0012others(3): Show | a0003c0003t0001a0003c0006t0001a0003c0012t0001others(3): Show | a0003c0003t0001g0050a0003c0003t0001g0121a0003c0003t0001g0124others(32): Show | 35 | 316 | 0.1108 | -29032 | c.464 others(9): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 40/71 | 4695/9172 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| MMP20_chr11_102571832_102630332 | 102578264 | ATCCGGAG others(1162): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18969.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0201 | 1 | 446 | 0.0022 | -1169 | c.124 others(17): Show |
MMP20 | ENSG00000137674.4 | transcript | ENST00000260228.3 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
| MS4A1_chr11_60450847_60475752 | 60460691 | GTTAACAT others(1215): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00558.hp2 HG01192.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008a0001c0001t0008g0023 | 12 | 446 | 0.0269 | -1222 | c.-27 others(17): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MTUS1_chr8_17638802_17806094 | 17723130 | AAAATAAG others(1120): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00735.hp2 HG02004.hp1 HG02280.hp2 others(2): Show |
a0008a0024 | a0008c0020a0024c0067 | a0008c0020t0012a0024c0067t0012 | a0008c0020t0012g0086a0008c0020t0012g0110a0008c0020t0012g0171others(2): Show | 5 | 330 | 0.0152 | -1127 | c.228 others(17): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
| MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show | 31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
| MYH1_chr17_10487307_10523542 | 10502946 | CTAAAGCA others(20589): Show |
C | exon_loss_variant | HIGH | NA18962.hp1 | a0008 | a0008c0037 | a0008c0037t0002 | a0008c0037t0002g0054 | 1 | 360 | 0.0028 | -20596 | c.-50 others(13): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 23/40 | chr17 | TogoVar | ||||||
| NAIP_chr5_70963166_71030339 | 71009536 | CAAAAATT others(5681): Show |
C | exon_loss_variant | HIGH | HG02622.hp2 HG03471.hp1 |
a0004 | a0004c0008 | a0004c0008t0017a0004c0008t0019 | a0004c0008t0017g0012a0004c0008t0019g0013 | 2 | 141 | 0.0142 | -5688 | c.-3- others(16): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
| NAV1_chr1_201534127_201831969 | 201586841 | AACACAAA others(3183): Show |
A | splice_acceptor_variant others(5): Show |
HIGH | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0015 | 1 | 210 | 0.0048 | -3190 | c.-14 others(18): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBEAL1_chr2_203009875_203230194 | 203111919 | TTTGTCAT others(4065): Show |
T | exon_loss_variant | HIGH | HG03688.hp1 | a0022 | a0022c0032 | a0022c0032t0001 | a0022c0032t0001g0246 | 1 | 292 | 0.0034 | -4072 | c.208 others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146068386 | AGAGGAGA others(4721): Show |
A | exon_loss_variant | HIGH | HG02040.hp2 | a0067 | a0067c0065 | a0067c0065t0019 | a0067c0065t0019g0061 | 1 | 283 | 0.0035 | -4728 | c.101 others(19): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 87/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146069646 | TGAATAAC others(3179): Show |
T | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp2 |
a0159a0167 | a0159c0175a0167c0158 | a0159c0175t0003a0167c0158t0003 | a0159c0175t0003g0177a0167c0158t0003g0176 | 2 | 283 | 0.0071 | -3186 | c.102 others(11): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 85/90 | 10741/13030 | chr1 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4721): Show |
G | exon_loss_variant | HIGH | HG03669.hp2 | a0041 | a0041c0027 | a0041c0027t0004 | a0041c0027t0004g0241 | 1 | 283 | 0.0035 | -4728 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4723): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 | a0190 | a0190c0209 | a0190c0209t0013 | a0190c0209t0013g0259 | 1 | 283 | 0.0035 | -4730 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4725): Show |
G | exon_loss_variant | HIGH | HG03688.hp2 | a0041 | a0041c0027 | a0041c0027t0014 | a0041c0027t0014g0242 | 1 | 283 | 0.0035 | -4732 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146073114 | GGAGGAGA others(9459): Show |
G | exon_loss_variant | HIGH | HG00639.hp1 | a0192 | a0192c0211 | a0192c0211t0004 | a0192c0211t0004g0226 | 1 | 283 | 0.0035 | -9466 | c.866 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 81/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146073961 | CCAAGATC others(14186): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp1 |
a0088a0159 | a0088c0150a0159c0175 | a0088c0150t0006a0159c0175t0003 | a0088c0150t0006g0143a0159c0175t0003g0177 | 2 | 283 | 0.0071 | -14193 | c.788 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 80/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146074347 | AGTCAGTT others(3187): Show |
A | exon_loss_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144a0089c0099t0006g0142a0090c0097t0006g0141others(2): Show | 5 | 283 | 0.0177 | -3194 | c.949 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10036/13030 | chr1 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146074349 | TCAGTTCA others(3189): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG00639.hp2 HG01099.hp2 others(16): Show |
a0033a0036a0144others(14): Show | a0033c0166a0033c0168a0036c0026others(15): Show | a0033c0166t0003a0033c0168t0003a0036c0026t0003others(15): Show | a0033c0166t0003g0194a0033c0168t0003g0212a0036c0026t0003g0182others(16): Show | 19 | 283 | 0.0671 | -3196 | c.949 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10034/13030 | chr1 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146076302 | CAGAGAGA others(28330): Show |
C | exon_loss_variant | HIGH | HG03017.hp2 | a0195 | a0195c0204 | a0195c0204t0004 | a0195c0204t0004g0250 | 1 | 283 | 0.0035 | -28337 | c.523 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146078508 | ATCCCAAT others(4723): Show |
A | exon_loss_variant | HIGH | NA19085.hp1 | a0174 | a0174c0221 | a0174c0221t0004 | a0174c0221t0004g0251 | 1 | 283 | 0.0035 | -4730 | c.861 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146078537 | CAAATGGT others(9450): Show |
C | exon_loss_variant | HIGH | HG00544.hp2 HG00621.hp2 NA19003.hp1 |
a0186a0198a0200 | a0186c0205a0198c0201a0200c0215 | a0186c0205t0004a0198c0201t0004a0200c0215t0004 | a0186c0205t0004g0236a0198c0201t0004g0235a0200c0215t0004g0233 | 3 | 283 | 0.0106 | -9457 | c.788 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146078626 | TCATCAAA others(14168): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0089 | a0089c0099 | a0089c0099t0006 | a0089c0099t0006g0142 | 1 | 283 | 0.0035 | -14175 | c.715 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146081897 | CCCTTGAG others(4720): Show |
C | exon_loss_variant | HIGH | HG00558.hp1 | a0199 | a0199c0202 | a0199c0202t0004 | a0199c0202t0004g0234 | 1 | 283 | 0.0035 | -4727 | c.810 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 70/90 | chr1 | TogoVar |