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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GGAGAGAG others(170): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 163 | 0.0061 | 177 | c.525 others(194): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP4K4_chr2_101692707_101899690 | 101785800 | T | TTCTTTTC others(170): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0289 | 1 | 310 | 0.0032 | 177 | c.124 others(194): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | chr2 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94464260 | T | TATATATA others(170): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0171 | 1 | 276 | 0.0036 | 177 | c.236 others(196): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82139 | C | CCGGCGCT others(170): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03017.hp2 HG03942.hp1 others(1): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0001c0002t0003a0005c0010t0001 | a0001c0002t0001g0033 a0001c0002t0001g0061 a0001c0002t0003g0072 others(1): Show |
4 | 442 | 0.0091 | 177 | c.301 others(192): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
MTMR6_chr13_25241222_25292488 | 25264753 | C | CAAAAAAA others(170): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0326 | 1 | 346 | 0.0029 | 177 | c.591 others(194): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 5/13 | chr13 | TogoVar | |||||||
MUC17_chr7_101015081_101063859 | 101039562 | C | CCTGTTGA others(170): Show |
disruptive_inframe_insertion | MODERATE | HG00544.hp2 HG01109.hp2 HG01361.hp1 others(33): Show |
a0006a0010a0024others(4): Show | a0006c0008a0006c0018a0006c0037others(15): Show | a0006c0008t0002a0006c0018t0002a0006c0037t0002others(15): Show | a0006c0008t0002g0061 a0006c0008t0002g0072 a0006c0008t0002g0075 others(32): Show |
36 | 366 | 0.0984 | 177 | c.816 others(186): Show |
p.Thr others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 8394/14352 | 8339/13482 | 2780/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101039677 | C | CAAGTATA others(170): Show |
disruptive_inframe_insertion | MODERATE | HG02572.hp1 | a0047 | a0047c0108 | a0047c0108t0001 | a0047c0108t0001g0144 | 1 | 366 | 0.0027 | 177 | c.833 others(186): Show |
p.Ser others(192): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 8394/14352 | 8339/13482 | 2780/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MXRA5_chrX_3303565_3351652 | 3341607 | A | ATATATAT others(170): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0017 | a0017c0041 | a0017c0041t0001 | a0017c0041t0001g0184 | 1 | 284 | 0.0035 | 177 | c.188 others(194): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(170): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0209 | 1 | 334 | 0.0030 | 177 | c.547 others(194): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 49883414 | G | GGAATAAC others(170): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03098.hp1 |
a0001a0010 | a0001c0002a0010c0019 | a0001c0002t0002a0010c0019t0002 | a0001c0002t0002g0211 a0010c0019t0002g0120 a0010c0019t0002g0157 |
3 | 238 | 0.0126 | 177 | c.304 others(196): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 22/39 | chr18 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699285 | T | TTCCCCAC others(170): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0002c0004t0005 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0002c0004t0005g0000 |
25 | 414 | 0.0604 | 177 | c.-15 others(188): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1457 | chr4 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(170): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 132 | 0.0076 | 177 | c.738 others(194): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(170): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0026 | 1 | 132 | 0.0076 | 177 | c.738 others(194): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(170): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 132 | 0.0076 | 177 | c.738 others(194): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(170): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 132 | 0.0076 | 177 | c.738 others(194): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(170): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0102 | 1 | 132 | 0.0076 | 177 | c.738 others(194): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667550 | G | GCCTTACC others(170): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 378 | 0.0027 | 177 | c.148 others(196): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667550 | G | GCCTTACC others(170): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 378 | 0.0027 | 177 | c.148 others(196): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667579 | C | CCCTTACC others(170): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 378 | 0.0027 | 177 | c.148 others(196): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667618 | C | CTACTGGG others(170): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 378 | 0.0027 | 177 | c.148 others(196): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667869 | T | TCCCTTAC others(170): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 378 | 0.0027 | 177 | c.148 others(196): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NETO2_chr16_47072703_47148945 | 47115716 | T | TATATATA others(170): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 2 | 168 | 0.0119 | 177 | c.655 others(194): Show |
NETO2 | ENSG00000171208.10 | transcript | ENST00000562435.6 | protein_coding | 6/8 | chr16 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(170): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0002 a0001c0001t0007g0010 a0001c0001t0009g0009 |
8 | 419 | 0.0191 | 177 | c.*58 others(188): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241813788 | G | GCTCCCCC others(170): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03041.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 |
3 | 319 | 0.0094 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813819 | C | CGATCCCC others(170): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 319 | 0.0031 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813819 | C | CGATCCCC others(170): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03098.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0013a0002c0003 | a0001c0013t0001a0002c0003t0002a0002c0003t0003 | a0001c0013t0001g0063 a0002c0003t0002g0146 a0002c0003t0003g0106 others(1): Show |
4 | 319 | 0.0125 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813819 | C | CGATCCCC others(170): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01192.hp2 others(38): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0002t0001g0053 a0001c0002t0001g0066 a0001c0004t0001g0005 others(27): Show |
41 | 319 | 0.1285 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813843 | C | CGTGACTC others(170): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0009a0007c0012others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(32): Show |
79 | 319 | 0.2477 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813879 | G | GATCCCCT others(170): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 319 | 0.0031 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241813903 | G | GTGACTCC others(170): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0102 | 1 | 319 | 0.0031 | 177 | c.-3- others(190): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400832 | A | ACCCCTCC others(170): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 322 | 0.0031 | 177 | c.127 others(194): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656359 | A | AAGCCCAC others(170): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0245 | 1 | 366 | 0.0027 | 177 | c.-16 others(198): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656480 | C | CCACAGCC others(170): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0010 | a0010c0009 | a0010c0009t0130 | a0010c0009t0130g0135 | 1 | 366 | 0.0027 | 177 | c.-16 others(198): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8661104 | T | TTCCTTCC others(170): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0004 | a0004c0004t0053 | a0004c0004t0053g0096 | 1 | 366 | 0.0027 | 177 | c.-16 others(198): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995533 | C | CTGTATAT others(170): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0137 | 1 | 362 | 0.0028 | 177 | c.-75 others(196): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848118 | A | AGGAAGAA others(170): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0339 a0003c0003t0002g0343 a0003c0003t0002g0344 others(1): Show |
4 | 388 | 0.0103 | 177 | c.-85 others(186): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 478 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848174 | A | AAGAAGAA others(170): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01981.hp1 others(10): Show |
a0005a0006a0008 | a0005c0006a0005c0014a0006c0011others(1): Show | a0005c0006t0002a0005c0014t0002a0006c0011t0002others(1): Show | a0005c0006t0002g0024 a0005c0006t0002g0285 a0005c0006t0002g0311 others(9): Show |
13 | 388 | 0.0335 | 177 | c.-79 others(186): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 422 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848174 | A | AAGAAGAA others(170): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0280 | 1 | 388 | 0.0026 | 177 | c.-79 others(186): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 422 | chr7 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148904 | C | CGCCGCCT others(170): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0288 | 1 | 294 | 0.0034 | 177 | c.901 others(190): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149929 | A | ACACCACA others(170): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 294 | 0.0034 | 177 | c.901 others(194): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82139 | C | CCGGCGCT others(170): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 HG03942.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0019g0015 |
3 | 350 | 0.0086 | 177 | c.*45 others(188): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3246 | chr16 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108299106 | A | AGAAAGAA others(170): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0142 | 1 | 208 | 0.0048 | 177 | c.-10 others(198): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62767524 | G | GGGAAGGA others(170): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 316 | 0.0032 | 177 | c.*72 others(188): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4754 | chr20 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56739654 | C | CGGCTGGC others(170): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0196 | 1 | 378 | 0.0027 | 177 | c.-14 others(194): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739654 | C | CGGCTGGC others(170): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0256 | 1 | 378 | 0.0027 | 177 | c.-14 others(194): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739662 | C | CGGGCAGG others(170): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(26): Show |
a0001a0005 | a0001c0004a0001c0009a0005c0024 | a0001c0004t0005a0001c0004t0015a0001c0004t0024others(2): Show | a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0022 others(26): Show |
29 | 378 | 0.0767 | 177 | c.-14 others(194): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUTM2F_chr9_94313198_94333644 | 94313294 | T | TATTATAT others(170): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 177 | c.*51 others(188): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4903 | chr9 | TogoVar | |||||||
ODF3_chr11_191761_205258 | 196510 | C | CTGGTGAG others(170): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 388 | 0.0052 | 177 | c.-54 others(186): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 250 | chr11 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135096149 | A | ATCCTCCT others(170): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0194 | 1 | 360 | 0.0028 | 177 | c.456 others(192): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OR4F5_chr1_60419_76585 | 66249 | A | ATATATAA others(170): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0048 | 1 | 215 | 0.0047 | 177 | c.9+6 others(188): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |