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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MMP10_chr11_102765502_102785628 | 102778751 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 456 | 0.0022 | 0 | c.497 others(5): Show |
MMP10 | ENSG00000166670.10 | transcript | ENST00000279441.9 | protein_coding | 3/9 | chr11 | 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 | ||||||
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 | |||||
MROH2A_chr2_233773330_233838418 | 233779344 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG03516.hp1 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0293 | 1 | 378 | 0.0027 | 0 | c.-14 others(5): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 1/41 | chr2 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233828629 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(15): Show |
a0008a0022a0028others(5): Show | a0008c0005a0008c0122a0022c0072others(7): Show | a0008c0005t0001a0008c0122t0001a0022c0072t0001others(7): Show | a0008c0005t0001g0134a0008c0005t0001g0191a0008c0005t0001g0224others(15): Show | 18 | 378 | 0.0476 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | TogoVar | ||||||
MROH6_chr8_143561192_143577772 | 143567889 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0159 | 1 | 437 | 0.0023 | 0 | c.176 others(6): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93479377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0137a0001c0001t0138others(2): Show | a0001c0001t0023g0026a0001c0001t0023g0163a0001c0001t0023g0165others(4): Show | 7 | 388 | 0.0180 | 1 | c.135 others(6): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MS4A12_chr11_60487778_60512430 | 60503700 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG01261.hp2 NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0049a0001c0003t0001g0050a0001c0003t0001g0051 | 3 | 432 | 0.0069 | 0 | c.472 others(5): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 4/6 | 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 | |||||
MSRB2_chr10_23090579_23127013 | 23104142 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 442 | 0.0023 | 0 | c.119 others(5): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
MST1R_chr3_49882002_49908873 | 49898213 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG03486.hp1 | a0018 | a0018c0010 | a0018c0010t0001 | a0018c0010t0001g0045 | 1 | 298 | 0.0034 | 0 | c.172 others(6): Show |
MST1R | ENSG00000164078.14 | transcript | ENST00000296474.8 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0002others(4): Show | 128 | 470 | 0.2723 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MTMR6_chr13_25241222_25292488 | 25258693 | CTAAAAT | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00735.hp2 HG01192.hp1 others(21): Show |
a0003a0009 | a0003c0004a0009c0011 | a0003c0004t0004a0003c0004t0025a0009c0011t0004 | a0003c0004t0004g0014a0003c0004t0004g0243a0003c0004t0004g0305others(20): Show | 24 | 346 | 0.0694 | -6 | c.727 others(17): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 6/13 | chr13 | 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 | ||||||
MUC13_chr3_124900442_124939751 | 124927969 | TCAGCTGA others(37): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03831.hp2 | a0014 | a0014c0011 | a0014c0011t0001 | a0014c0011t0001g0227 | 1 | 452 | 0.0022 | -44 | c.53- others(52): Show |
p.Ala others(11): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 2/12 | 115/2879 | 53/1539 | 18/512 | chr3 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101031600 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG03491.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0193 | 1 | 366 | 0.0027 | 0 | c.185 others(5): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 2/12 | chr7 | 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 | ||||||
MUC4_chr3_195741771_195816929 | 195749032 | ATCTGAAG others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01192.hp2 | a0058 | a0058c0200 | a0058c0200t0015 | a0058c0200t0015g0234 | 1 | 249 | 0.0040 | -35 | c.158 others(48): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 24/25 | 16015/16756 | 15872/16239 | 5291/5412 | 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 | ||||||
MUTYH_chr1_45324242_45344970 | 45332088 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 NA18968.hp1 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(2): Show | 5 | 402 | 0.0124 | 0 | c.850 others(5): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000456914.7 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
MUTYH_chr1_45324242_45345440 | 45332088 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 NA18968.hp1 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(2): Show | 5 | 404 | 0.0124 | 0 | c.934 others(5): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000710952.2 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76688178 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 416 | 0.0024 | 0 | c.343 others(5): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MYC_chr8_127731231_127747951 | 127740391 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | NA18988.hp1 NA19003.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0032g0040 | 3 | 442 | 0.0068 | -1 | c.803 others(6): Show |
MYC | ENSG00000136997.22 | transcript | ENST00000621592.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYH11_chr16_15698135_15862028 | 15738689 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.299 others(6): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 23/40 | chr16 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108408405 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG01192.hp2 HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0055a0001c0010t0001g0056a0001c0010t0001g0057 | 3 | 306 | 0.0098 | 0 | c.449 others(6): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 31/40 | chr3 | TogoVar | ||||||
MYH4_chr17_10438290_10474559 | 10447218 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 338 | 0.0030 | 0 | c.496 others(6): Show |
MYH4 | ENSG00000264424.1 | transcript | ENST00000255381.2 | protein_coding | 34/39 | chr17 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2680292 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0219 | 1 | 384 | 0.0026 | 0 | c.688 others(5): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150671753 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 394 | 0.0025 | 0 | c.271 others(5): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
MYRF_chr11_61747636_61793518 | 61779228 | T | TTGGCCCA others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 330 | 0.0030 | 14 | c.201 others(28): Show |
MYRF | ENSG00000124920.14 | transcript | ENST00000278836.10 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAA80_chr3_50291402_50304405 | 50297674 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0030 | 1 | 378 | 0.0027 | 0 | c.-20 others(6): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90181618 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0127 | 1 | 364 | 0.0028 | 0 | c.185 others(6): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 16/18 | chr11 | TogoVar | ||||||
NACA_chr12_56707427_56730299 | 56713181 | AATCTTCG others(18): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19091.hp2 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0085 | 1 | 366 | 0.0027 | -25 | c.597 others(37): Show |
p.Ile others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 7/9 | 6018/6387 | 5971/6237 | 1991/2078 | chr12 | TogoVar | ||
NACC1_chr19_13113264_13146147 | 13136231 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA18961.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0203 | 1 | 326 | 0.0031 | 0 | c.947 others(5): Show |
NACC1 | ENSG00000160877.7 | transcript | ENST00000292431.5 | protein_coding | 2/5 | chr19 | 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 | |||||
NBDY_chrX_56724243_56824179 | 56732061 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 160 | 0.0063 | 0 | c.*30 others(5): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 1/2 | chrX | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203056420 | CTCACAGA others(25): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0008 | a0008c0034 | a0008c0034t0002 | a0008c0034t0002g0115 | 1 | 292 | 0.0034 | -32 | c.306 others(41): Show |
p.Asn others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/56 | 306/8172 | 102/2723 | chr2 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068176 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02129.hp2 | a0098 | a0098c0111 | a0098c0111t0002 | a0098c0111t0002g0122 | 1 | 283 | 0.0035 | 0 | c.108 others(7): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 87/89 | chr1 | 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 | ||||||
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(64): Show | 70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120442949 | ACCCCCAG others(6346): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA20905.hp1 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0033 | 1 | 292 | 0.0034 | -6353 | c.778 others(12): Show |
p.Val others(19): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NCKAP5L_chr12_49786152_49833413 | 49793434 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 366 | 0.0027 | 0 | c.325 others(6): Show |
NCKAP5L | ENSG00000167566.17 | transcript | ENST00000335999.7 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
NDRG1_chr8_133232175_133302252 | 133284329 | CCT | C | splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02559.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0003g0158a0001c0001t0004g0092a0001c0002t0001g0047others(2): Show | 5 | 378 | 0.0132 | -2 | c.-18 others(13): Show |
NDRG1 | ENSG00000104419.17 | transcript | ENST00000323851.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
NDUFA7_chr19_8306284_8326375 | 8310729 | CTGGGTAT others(3934): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00621.hp1 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0121 | 1 | 402 | 0.0025 | -3941 | c.251 others(13): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
NEIL3_chr4_177304874_177367936 | 177341459 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG02135.hp1 HG03688.hp1 HG04228.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0016others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0016t0004others(1): Show | a0001c0001t0001g0135a0002c0002t0001g0361a0002c0002t0001g0362others(5): Show | 8 | 408 | 0.0196 | 1 | c.703 others(6): Show |
NEIL3 | ENSG00000109674.4 | transcript | ENST00000264596.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NEK10_chr3_27101484_27374383 | 27250812 | TTGTTTCT others(25411): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01884.hp2 | a0012 | a0012c0022 | a0012c0022t0009 | a0012c0022t0009g0231 | 1 | 234 | 0.0043 | -25418 | c.201 others(19): Show |
NEK10 | ENSG00000163491.18 | transcript | ENST00000691995.1 | protein_coding | 23/36 | chr3 | TogoVar | ||||||
NEK3_chr13_52127647_52164597 | 52143988 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 398 | 0.0025 | 0 | c.805 others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 9/15 | chr13 | TogoVar | ||||||
NEO1_chr15_73047463_73310205 | 73260253 | T | TCCACTTT others(6): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02135.hp2 HG03130.hp1 HG03453.hp2 others(6): Show |
a0001a0002 | a0001c0005a0001c0021a0002c0006 | a0001c0005t0003a0001c0021t0003a0002c0006t0003 | a0001c0005t0003g0120a0001c0021t0003g0044a0002c0006t0003g0077others(6): Show | 9 | 324 | 0.0278 | 13 | c.220 others(27): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NFAT5_chr16_69560966_69709654 | 69568494 | G | T | splice_acceptor_variant others(1): Show |
HIGH | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 380 | 0.0026 | 0 | c.74- others(4): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
NFKB2_chr10_102390705_102407524 | 102397259 | GAAAGAAC others(40): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA18979.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0045 | 1 | 424 | 0.0024 | -47 | c.396 others(57): Show |
p.Gln others(19): Show |
NFKB2 | ENSG00000077150.21 | transcript | ENST00000661543.1 | protein_coding | 7/23 | 396/2703 | 132/900 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |