| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0001c0001t0008g0008 a0001c0001t0008g0026 |
12 | 444 | 0.0270 | -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 | a0001c0001t0001g0107 | 1 | 440 | 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 | a0014 | a0014c0010 | a0014c0010t0001 | a0014c0010t0001g0045 | 1 | 296 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show |
128 | 468 | 0.2735 | 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 | a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0004g0223 others(19): Show |
24 | 344 | 0.0698 | -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 |
a0009a0039 | a0009c0020a0039c0067 | a0009c0020t0012a0039c0067t0012 | a0009c0020t0012g0086 a0009c0020t0012g0110 a0009c0020t0012g0171 others(2): Show |
5 | 328 | 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 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0222 | 1 | 450 | 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 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0191 | 1 | 364 | 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 |
a0003a0010a0011others(4): Show | a0003c0002a0010c0008a0011c0010others(5): Show | a0003c0002t0002a0010c0008t0002a0011c0010t0002others(5): Show | a0003c0002t0002g0001 a0003c0002t0002g0025 a0003c0002t0002g0028 others(14): Show |
31 | 184 | 0.1685 | -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 | a0038 | a0038c0161 | a0038c0161t0015 | a0038c0161t0015g0234 | 1 | 248 | 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 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0004a0002c0002t0008a0007c0010t0004 | a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show |
72 | 434 | 0.1659 | 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 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(2): Show |
5 | 400 | 0.0125 | 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 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(2): Show |
5 | 402 | 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 | a0001c0001t0001g0110 | 1 | 414 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0032g0040 |
3 | 440 | 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 | a0010 | a0010c0039 | a0010c0039t0002 | a0010c0039t0002g0117 | 1 | 296 | 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 | a0001c0010t0001g0055 a0001c0010t0001g0056 a0001c0010t0001g0057 |
3 | 304 | 0.0099 | 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 | a0002c0002t0001g0073 | 1 | 336 | 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 | 382 | 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 | a0001c0001t0001g0080 | 1 | 392 | 0.0026 | 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 | a0001c0001t0001g0154 | 1 | 326 | 0.0031 | 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 | 376 | 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 | a0007c0011t0002g0128 | 1 | 362 | 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 | a0036 | a0036c0030 | a0036c0030t0001 | a0036c0030t0001g0071 | 1 | 364 | 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 | a0004c0008t0001g0201 | 1 | 324 | 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 | a0001c0001t0082 | a0001c0001t0082g0021 | 1 | 208 | 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 | a0001c0001t0003g0018 | 1 | 158 | 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 | a0017 | a0017c0032 | a0017c0032t0002 | a0017c0032t0002g0116 | 1 | 290 | 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 | a0021 | a0021c0023 | a0021c0023t0002 | a0021c0023t0002g0120 | 1 | 282 | 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 |
a0002a0006a0007others(78): Show | a0002c0001a0006c0004a0006c0019others(83): Show | a0002c0001t0001a0002c0001t0021a0002c0001t0022others(86): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0024 others(145): Show |
158 | 282 | 0.5603 | 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 |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | 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 |
a0002a0003a0004others(6): Show | a0002c0001a0003c0006a0004c0003others(6): Show | a0002c0001t0053a0002c0001t0054a0003c0006t0005others(20): Show | a0002c0001t0053g0068 a0002c0001t0054g0065 a0003c0006t0005g0004 others(64): Show |
70 | 290 | 0.2414 | -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 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0040 | 1 | 290 | 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 | a0002c0002t0001g0116 | 1 | 364 | 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 | a0001c0001t0003g0166 a0001c0001t0004g0298 a0001c0002t0001g0015 others(2): Show |
5 | 376 | 0.0133 | -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 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0101 | 1 | 400 | 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 | a0001c0001t0001g0135 a0002c0002t0001g0361 a0002c0002t0001g0362 others(5): Show |
8 | 365 | 0.0219 | 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 | a0013 | a0013c0021 | a0013c0021t0009 | a0013c0021t0009g0231 | 1 | 232 | 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 | a0002c0002t0002g0075 | 1 | 396 | 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 | a0001c0005t0003g0120 a0001c0021t0003g0044 a0002c0006t0003g0077 others(6): Show |
9 | 322 | 0.0280 | 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 | a0001c0001t0001g0317 | 1 | 378 | 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 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0037 | 1 | 422 | 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 | |||
| NHLRC4_chr16_562005_574495 | 567469 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0005g0002 a0002c0002t0001g0002 |
7 | 422 | 0.0166 | 0 | c.-57 others(6): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| NLRP5_chr19_55994726_56066810 | 56019729 | CAGTAATT others(1026): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
a0014 | a0014c0096a0014c0128a0014c0129others(1): Show | a0014c0096t0001a0014c0128t0001a0014c0129t0003others(1): Show | a0014c0096t0001g0106 a0014c0128t0001g0102 a0014c0129t0003g0308 others(1): Show |
4 | 391 | 0.0102 | -1033 | c.622 others(15): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NMRK2_chr19_3928069_3947416 | 3937233 | GTTTCAGC others(39): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18954.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0174 | 1 | 402 | 0.0025 | -46 | c.118 others(55): Show |
p.Pro others(4): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/8 | 118/693 | 40/230 | chr19 | TogoVar | ||||
| NOP14_chr4_2932936_2968406 | 2948409 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 420 | 0.0024 | 0 | c.128 others(6): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 8/17 | chr4 | TogoVar | |||||||
| NOS3_chr7_150986017_151019588 | 150993751 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 380 | 0.0026 | 0 | c.-51 others(5): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 1/26 | chr7 | TogoVar | |||||||
| NOS3_chr7_150986017_151019588 | 150993752 | G | T | splice_acceptor_variant others(1): Show |
HIGH | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 380 | 0.0026 | 0 | c.-51 others(5): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 1/26 | chr7 | TogoVar | |||||||
| NOTUM_chr17_81947507_81966187 | 81958995 | C | CTCTTGGG others(38): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0045 | 1 | 382 | 0.0026 | 45 | c.473 others(54): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
| NOX5_chr15_69009695_69067762 | 69047828 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 2 | 394 | 0.0051 | 0 | c.181 others(6): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 12/15 | chr15 | TogoVar |