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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0004a0003c0003t0002g0035a0003c0003t0002g0040others(6): Show | 58 | 425 | 0.1365 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HRG_chr3_186661014_186683234 | 186677185 | G | T | stop_gained | HIGH | HG02717.hp2 HG02896.hp1 HG02897.hp2 |
a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0028a0012c0012t0001g0029 | 3 | 472 | 0.0064 | 0 | c.880 others(3): Show |
p.Glu others(4): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 7/7 | 898/1947 | 880/1578 | 294/525 | chr3 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
HSD17B13_chr4_87298794_87327882 | 87313944 | CG | C | frameshift_variant | HIGH | HG00639.hp2 HG01884.hp1 HG02257.hp1 others(25): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(2): Show | a0002c0002t0001g0038a0002c0002t0001g0056a0002c0002t0001g0180others(19): Show | 28 | 442 | 0.0634 | -1 | c.573 others(4): Show |
p.Ala others(5): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 5/7 | 614/2368 | 573/903 | 191/300 | chr4 | TogoVar | ||
HSFX4_chrX_149924573_149936287 | 149930854 | AGTGCCAC others(57): Show |
A | frameshift_variant | HIGH | HG02897.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 301 | 0.0033 | -64 | c.752 others(71): Show |
p.Ser others(5): Show |
HSFX4 | ENSG00000283463.2 | transcript | ENST00000457775.3 | protein_coding | 2/2 | 824/1256 | 752/1002 | 251/333 | chrX | TogoVar | ||
IGLL5_chr22_22882816_22901111 | 22888117 | C | T | stop_gained | HIGH | HG02897.hp1 | a0007 | a0007c0020 | a0007c0020t0004 | a0007c0020t0004g0030 | 1 | 302 | 0.0033 | 0 | c.64C others(2): Show |
p.Gln others(3): Show |
IGLL5 | ENSG00000254709.8 | transcript | ENST00000526893.6 | protein_coding | 1/3 | 302/1300 | 64/645 | 22/214 | chr22 | TogoVar | ||
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 314 | 0.0637 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9438045 | G | GTT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01952.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0076others(6): Show | 9 | 314 | 0.0287 | 2 | c.249 others(15): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IQCM_chr4_149346709_149820843 | 149733320 | TGG | T | frameshift_variant | HIGH | HG00639.hp2 HG02896.hp1 HG02897.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0016a0003c0005t0001g0139a0003c0005t0001g0192others(3): Show | 6 | 252 | 0.0238 | -2 | c.307 others(9): Show |
p.Pro others(5): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/14 | 638/2078 | 307/1506 | 103/501 | chr4 | TogoVar | ||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0045others(102): Show | 105 | 142 | 0.7394 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | ||||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | ||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KPRP_chr1_152753025_152767056 | 152761321 | A | AT | frameshift_variant others(1): Show |
HIGH | HG02615.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0000 | a0000c0008 | a0000c0008t0002 | a0000c0008t0002g0001 | 6 | 428 | 0.0140 | 1 | c.173 others(5): Show |
p.Ter others(5): Show |
KPRP | ENSG00000203786.7 | transcript | ENST00000606109.2 | protein_coding | 2/2 | 1802/2531 | 1739/1740 | 580/579 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0000 | a0000c0011a0000c0012a0000c0014others(16): Show | a0000c0011t0005a0000c0011t0006a0000c0012t0005others(17): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0012t0005g0000others(17): Show | 35 | 476 | 0.0735 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | ||
KRTAP6-2_chr21_30593590_30603902 | 30598756 | T | TA | frameshift_variant | HIGH | HG02258.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0000 | 9 | 442 | 0.0204 | 1 | c.118 others(4): Show |
p.Tyr others(4): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1/1 | 146/313 | 118/189 | 40/62 | chr21 | TogoVar | ||
L3HYPDH_chr14_59467606_59489408 | 59483914 | TATTGACG others(15): Show |
T | frameshift_variant | HIGH | HG02897.hp1 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0038 | 1 | 354 | 0.0028 | -22 | c.381 others(29): Show |
p.Thr others(5): Show |
L3HYPDH | ENSG00000126790.12 | transcript | ENST00000247194.9 | protein_coding | 1/5 | 494/1516 | 381/1065 | 127/354 | chr14 | TogoVar | ||
LAMA5_chr20_62304065_62372312 | 62312886 | A | C | splice_donor_variant others(1): Show |
HIGH | HG02897.hp2 | a0080 | a0080c0128 | a0080c0128t0001 | a0080c0128t0001g0026 | 1 | 186 | 0.0054 | 0 | c.907 others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 66/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62312887 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02897.hp2 | a0080 | a0080c0128 | a0080c0128t0001 | a0080c0128t0001g0026 | 1 | 186 | 0.0054 | 0 | c.907 others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 66/79 | chr20 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | ||
LRRC34_chr3_169788003_169817904 | 169796284 | TAAAGG | T | frameshift_variant | HIGH | HG01255.hp2 HG02258.hp1 HG02896.hp2 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0007a0005c0005t0001g0086a0005c0005t0001g0087 | 7 | 322 | 0.0217 | -5 | c.989 others(12): Show |
p.Ser others(5): Show |
LRRC34 | ENSG00000171757.17 | transcript | ENST00000446859.7 | protein_coding | 9/11 | 1349/2383 | 989/1395 | 330/464 | chr3 | TogoVar | ||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0027a0001c0002t0029others(78): Show | a0001c0002t0001g0199a0001c0002t0001g0243a0001c0002t0001g0253others(88): Show | 91 | 338 | 0.2692 | 4 | c.468 others(17): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr15 | 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 | ||||||
LYPD2_chr8_142745150_142757532 | 142750291 | G | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 | 2 | 396 | 0.0051 | 0 | c.370 others(3): Show |
p.Arg others(4): Show |
LYPD2 | ENSG00000197353.4 | transcript | ENST00000359228.4 | protein_coding | 3/3 | 451/592 | 370/378 | 124/125 | chr8 | TogoVar | ||
MAGEA6_chrX_152761136_152774689 | 152767158 | C | CGATGCCA others(4): Show |
frameshift_variant | HIGH | HG02897.hp2 | a0010 | a0010c0018 | a0010c0018t0003 | a0010c0018t0003g0062 | 1 | 183 | 0.0055 | 11 | c.482 others(18): Show |
p.Glu others(5): Show |
MAGEA6 | ENSG00000197172.11 | transcript | ENST00000329342.10 | protein_coding | 3/3 | 659/1682 | 492/945 | 164/314 | chrX | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEC3_chrX_141833316_141902832 | 141879368 | GCTACACC others(10): Show |
G | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show |
a0006 | a0006c0006a0006c0017a0006c0026others(2): Show | a0006c0006t0000a0006c0017t0000a0006c0026t0000others(2): Show | a0006c0006t0000g0022a0006c0006t0000g0069a0006c0006t0000g0216others(15): Show | 18 | 298 | 0.0604 | -17 | c.455 others(24): Show |
p.Tyr others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 3/8 | 455/1932 | 455/1932 | 152/643 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAP3K15_chrX_19355059_19520508 | 19464377 | TG | T | frameshift_variant | HIGH | HG02897.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0129 | 1 | 163 | 0.0061 | -1 | c.554 others(4): Show |
p.Pro others(5): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 4/29 | 801/4879 | 554/3942 | 185/1313 | chrX | TogoVar | ||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | ||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0009 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0039a0001c0004t0003g0040a0001c0004t0003g0041others(22): Show | 25 | 260 | 0.0962 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0000 | a0000c0001a0000c0011a0000c0013others(3): Show | a0000c0001t0002a0000c0001t0003a0000c0011t0003others(4): Show | a0000c0001t0002g0029a0000c0001t0003g0006a0000c0001t0003g0009others(21): Show | 86 | 439 | 0.1959 | 11 | c.952 others(18): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MINDY4B_chr3_150865376_150910439 | 150871091 | C | T | stop_gained | HIGH | HG01891.hp2 HG02895.hp2 HG02897.hp2 |
a0007a0012 | a0007c0007a0012c0011 | a0007c0007t0005a0012c0011t0005 | a0007c0007t0005g0004a0012c0011t0005g0016 | 3 | 432 | 0.0069 | 0 | c.133 others(4): Show |
p.Trp others(4): Show |
MINDY4B | ENSG00000214237.11 | transcript | ENST00000465419.7 | protein_coding | 12/12 | 1337/2052 | 1337/1383 | 446/460 | chr3 | TogoVar | ||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRC2_chr17_62622670_62698597 | 62692294 | T | A | stop_gained | HIGH | HG02897.hp2 | a0016 | a0016c0029 | a0016c0029t0002 | a0016c0029t0002g0016 | 1 | 312 | 0.0032 | 0 | c.428 others(4): Show |
p.Leu others(5): Show |
MRC2 | ENSG00000011028.14 | transcript | ENST00000303375.10 | protein_coding | 30/30 | 4416/5719 | 4283/4440 | 1428/1479 | chr17 | TogoVar | ||
MRC2_chr17_62622670_62698597 | 62692335 | ATCGAGCG others(13): Show |
A | frameshift_variant | HIGH | HG02897.hp2 | a0016 | a0016c0029 | a0016c0029t0002 | a0016c0029t0002g0016 | 1 | 312 | 0.0032 | -20 | c.432 others(29): Show |
p.Ile others(6): Show |
MRC2 | ENSG00000011028.14 | transcript | ENST00000303375.10 | protein_coding | 30/30 | 4458/5719 | 4325/4440 | 1442/1479 | chr17 | TogoVar | ||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0004g0012others(6): Show | 169 | 436 | 0.3876 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | 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 | ||||||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0004a0002c0002t0008a0008c0012t0004 | a0002c0002t0004g0005a0002c0002t0004g0010a0002c0002t0004g0013others(14): Show | 72 | 436 | 0.1651 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0003a0005others(116): Show | a0002c0002a0003c0003a0005c0072others(126): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(129): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(150): Show | 158 | 283 | 0.5583 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | ||||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149463506 | G | A | stop_gained | HIGH | HG02145.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0016 | a0016c0015 | a0016c0015t0015a0016c0015t0047 | a0016c0015t0015g0236a0016c0015t0015g0237a0016c0015t0015g0238others(1): Show | 4 | 260 | 0.0154 | 0 | c.485 others(3): Show |
p.Trp others(4): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 4/5 | 652/8729 | 485/882 | 162/293 | chr1 | TogoVar | ||
NOX5_chr15_69009695_69067762 | 69047828 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 2 | 396 | 0.0051 | 0 | c.181 others(6): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 12/15 | chr15 | TogoVar |