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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPAS3_chr14_32933879_33809173 | 33544827 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0076 | 1 | 66 | 0.0152 | 33 | c.469 others(52): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 116 | 0.0086 | 33 | c.255 others(50): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPFFR1_chr10_70242329_70289004 | 70272244 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0088 | a0001c0002t0088g0244 | 1 | 8 | 0.1250 | 33 | c.8-5 others(46): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0183 | 1 | 32 | 0.0313 | 33 | c.517 others(50): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0193 | 1 | 32 | 0.0313 | 33 | c.517 others(50): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74377800 | C | CCCCCTCC others(26): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02132.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 |
3 | 173 | 0.0173 | 33 | c.-22 others(47): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377800 | C | CCCCCTCC others(26): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 171 | 0.0058 | 33 | c.-22 others(48): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021909 | C | CAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 14 | 0.0714 | 33 | c.-28 others(44): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2224 | chr8 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34790967 | A | ATATATGT others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(24): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0029 a0001c0002t0001g0093 a0001c0002t0001g0231 others(24): Show |
27 | 255 | 0.1059 | 33 | c.384 others(52): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPS_chr10_127544309_127558540 | 127554776 | T | TCTCCCTC others(26): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 215 | 0.0047 | 33 | c.*21 others(44): Show |
NPS | ENSG00000214285.3 | transcript | ENST00000398023.3 | protein_coding | 1237 | chr10 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 a0002c0002t0001g0119 |
2 | 303 | 0.0066 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03579.hp1 HG03710.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 a0002c0002t0001g0059 a0002c0002t0001g0120 others(1): Show |
7 | 308 | 0.0227 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp1 others(67): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(2): Show | a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 others(31): Show |
70 | 371 | 0.1887 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 302 | 0.0033 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0091 others(3): Show |
11 | 312 | 0.0353 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148363504 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 106 | 0.0094 | 33 | c.175 others(54): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NR5A2_chr1_200022710_200182415 | 200074736 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18981.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0212 a0001c0001t0003g0190 a0001c0001t0003g0263 |
3 | 70 | 0.0429 | 33 | c.111 others(54): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00609.hp1 HG06807.hp1 NA19058.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0003t0004a0002c0005t0003 | a0001c0002t0001g0091 a0001c0002t0001g0154 a0001c0003t0004g0208 others(1): Show |
4 | 38 | 0.1053 | 33 | c.-10 others(54): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 a0001c0001t0002g0114 |
2 | 77 | 0.0260 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0051 |
2 | 77 | 0.0260 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0141 a0001c0001t0002g0083 |
2 | 77 | 0.0260 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0002t0001g0223 others(1): Show |
4 | 79 | 0.0506 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0221 |
2 | 77 | 0.0260 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18991.hp1 NA18991.hp2 NA19000.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0086a0002c0002t0114a0003c0003t0001others(2): Show | a0002c0002t0086g0069 a0002c0002t0114g0220 a0003c0003t0001g0016 others(3): Show |
6 | 114 | 0.0526 | 33 | c.502 others(52): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRIP2_chr12_2820348_2840035 | 2835190 | T | TGTGTGTG others(26): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 117 | 0.0085 | 33 | c.-20 others(42): Show |
NRIP2 | ENSG00000053702.15 | transcript | ENST00000337508.9 | protein_coding | 156 | chr12 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03831.hp2 |
a0001 | a0001c0003a0001c0025 | a0001c0003t0007a0001c0025t0001 | a0001c0003t0007g0008 a0001c0025t0001g0230 |
2 | 153 | 0.0131 | 33 | c.186 others(52): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50644841 | T | TTATATTT others(26): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0012 | a0001c0012t0041 | a0001c0012t0041g0102 | 1 | 116 | 0.0086 | 33 | c.833 others(52): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 7 | 0.1429 | 33 | c.833 others(52): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NSA2_chr5_74762249_74785113 | 74784510 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 238 | 0.0042 | 33 | c.*78 others(44): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 4398 | chr5 | TogoVar | |||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0042a0001c0001t0043a0004c0004t0055 | a0001c0001t0042g0264 a0001c0001t0043g0089 a0004c0004t0055g0288 |
3 | 237 | 0.0127 | 33 | c.754 others(48): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NSUN6_chr10_18540561_18656587 | 18600941 | A | AAATATAT others(26): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18983.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0083 |
3 | 92 | 0.0326 | 33 | c.658 others(50): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39674105 | T | TTTATTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0073 | 1 | 324 | 0.0031 | 33 | c.-20 others(44): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 1999 | chr1 | TogoVar | |||||||
NT5DC4_chr2_112716020_112744095 | 112720012 | C | CTTTTCCC others(26): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0275 | 1 | 273 | 0.0037 | 33 | c.-10 others(44): Show |
NT5DC4 | ENSG00000144130.12 | transcript | ENST00000688554.1 | protein_coding | 1007 | chr2 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 132282976 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 7 | 0.1429 | 33 | c.527 others(52): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02257.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0002g0043 a0001c0001t0004g0005 others(2): Show |
5 | 111 | 0.0450 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCACACA others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0001g0198 others(23): Show |
26 | 132 | 0.1970 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCTCACA others(26): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 107 | 0.0093 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
NTRK2_chr9_84664729_85032054 | 84797659 | A | ACTATATA others(26): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18988.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0036 | a0001c0001t0002g0034 a0001c0001t0005g0044 a0001c0002t0036g0033 |
3 | 159 | 0.0189 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
NTRK2_chr9_84664729_85032054 | 84797744 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0059others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0055 a0001c0001t0011g0004 others(3): Show |
6 | 168 | 0.0357 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84797777 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0004others(2): Show | a0001c0001t0003g0071 a0001c0001t0008g0155 a0001c0002t0004g0141 others(2): Show |
5 | 109 | 0.0459 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUBPL_chr14_31556404_31866224 | 31841921 | T | TGTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0153 | 1 | 266 | 0.0038 | 33 | c.694 others(50): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 8/10 | chr14 | TogoVar | |||||||
NUMA1_chr11_71997864_72085542 | 72049560 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0162 | 1 | 72 | 0.0139 | 33 | c.-32 others(52): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73353072 | G | GTTTTTCT others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 33 | 0.0303 | 33 | c.126 others(50): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUP155_chr5_37283137_37376106 | 37294005 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 128 | 0.0078 | 33 | c.393 others(50): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 33/34 | chr5 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47775210 | T | TAGAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 NA18962.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 a0001c0001t0002g0291 a0001c0001t0002g0326 |
3 | 257 | 0.0117 | 33 | c.*38 others(44): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2907 | chr11 | TogoVar | |||||||
NUP188_chr9_128942699_129012096 | 128984124 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18979.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0002t0001g0096 |
2 | 175 | 0.0114 | 33 | c.196 others(50): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP210_chr3_13311235_13425322 | 13311940 | A | ACACCAAC others(26): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02970.hp2 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0005 a0009c0009t0001g0193 |
2 | 318 | 0.0063 | 33 | c.*57 others(44): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4294 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(26): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 157 | 0.0064 | 33 | c.*57 others(44): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(26): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02717.hp1 HG03195.hp2 |
a0002a0006a0012 | a0002c0002a0006c0007a0012c0015 | a0002c0002t0001a0006c0007t0001a0012c0015t0001 | a0002c0002t0001g0309 a0006c0007t0001g0002 a0012c0015t0001g0196 |
3 | 159 | 0.0189 | 33 | c.*57 others(44): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(26): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(3): Show |
a0003a0005a0006others(1): Show | a0003c0005a0005c0003a0006c0007others(1): Show | a0003c0005t0005a0005c0003t0001a0006c0007t0001others(1): Show | a0003c0005t0005g0062 a0005c0003t0001g0301 a0006c0007t0001g0013 others(3): Show |
6 | 162 | 0.0370 | 33 | c.*57 others(44): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar |