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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOTUM_chr17_81947507_81966187 | 81960791 | T | TCGGTCCG others(27): Show |
frameshift_variant | HIGH | HG02895.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0123 | 1 | 382 | 0.0026 | 34 | c.118 others(41): Show |
p.Glu others(4): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 1/11 | 396/2223 | 118/1491 | 40/496 | chr17 | TogoVar | |||
NOX4_chr11_89319353_89496375 | 89419672 | T | TATTTCTC others(27): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 286 | 0.0035 | 34 | c.629 others(51): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 8/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89486257 | T | TTTTATTT others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0101a0001c0002t0024others(1): Show | a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 others(4): Show |
7 | 286 | 0.0245 | 34 | c.153 others(51): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89486697 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0139 | 1 | 169 | 0.0059 | 34 | c.153 others(51): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89486697 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(92): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(38): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(91): Show |
95 | 263 | 0.3612 | 34 | c.153 others(51): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX5_chr15_69009695_69067762 | 69045536 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0080 | 1 | 84 | 0.0119 | 34 | c.164 others(53): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100979502 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0150 | 1 | 226 | 0.0044 | 34 | c.148 others(53): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33301306 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0001 | a0001c0001t0020g0073 a0001c0003t0001g0039 |
2 | 47 | 0.0426 | 34 | c.386 others(53): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33563537 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0029a0001c0001t0043 | a0001c0001t0023g0017 a0001c0001t0029g0035 a0001c0001t0043g0092 |
3 | 48 | 0.0625 | 34 | c.558 others(51): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 116 | 0.0086 | 34 | c.255 others(51): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72036513 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(108): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 others(99): Show |
111 | 325 | 0.3415 | 34 | c.-8+ others(49): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72036516 | T | TATATAAT others(27): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 342 | 0.0029 | 34 | c.-8+ others(49): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72145265 | A | ATTTGTTA others(27): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0293 | 1 | 114 | 0.0088 | 34 | c.429 others(51): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0185 | 1 | 32 | 0.0313 | 34 | c.517 others(51): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74377811 | T | TCCCCTCC others(27): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 245 | 0.0041 | 34 | c.-22 others(49): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377848 | C | CTCCCCCT others(27): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 | 2 | 242 | 0.0083 | 34 | 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 | 74377848 | C | CTCCCCCT others(27): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 241 | 0.0041 | 34 | c.-22 others(47): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28470551 | G | GAGGGGAG others(27): Show |
5_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0021 | a0021c0027 | a0021c0027t0012 | a0021c0027t0012g0270 | 1 | 375 | 0.0027 | 34 | c.-14 others(43): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 114 | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28639444 | C | CACACATA others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0337 a0009c0010t0003g0338 |
2 | 252 | 0.0079 | 34 | c.120 others(49): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28644421 | C | CCCCCTTC others(27): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 349 | 0.0029 | 34 | c.121 others(51): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPR1_chr1_153673688_153698992 | 153690141 | T | TGTCTCTC others(27): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 179 | 0.0056 | 34 | c.293 others(51): Show |
NPR1 | ENSG00000169418.10 | transcript | ENST00000368680.4 | protein_coding | 19/21 | chr1 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 135028 | C | CACATAGA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 348 | 0.0029 | 34 | c.118 others(51): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34663067 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 |
a0003a0004 | a0003c0007a0004c0003 | a0003c0007t0002a0004c0003t0002 | a0003c0007t0002g0131 a0004c0003t0002g0132 |
2 | 167 | 0.0120 | 34 | c.147 others(51): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18972.hp1 NA19000.hp2 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0007c0007t0001 | a0002c0002t0001g0102 a0002c0002t0001g0127 a0007c0007t0001g0132 |
3 | 304 | 0.0099 | 34 | c.418 others(49): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 302 | 0.0033 | 34 | c.418 others(49): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 302 | 0.0033 | 34 | c.418 others(49): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148363504 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 106 | 0.0094 | 34 | c.175 others(55): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NR4A1_chr12_52046442_52064503 | 52055758 | T | TGTCTAGA others(27): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0051 | 1 | 420 | 0.0024 | 34 | c.877 others(49): Show |
NR4A1 | ENSG00000123358.20 | transcript | ENST00000394825.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200074736 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02027.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0145 a0001c0002t0001g0124 |
2 | 69 | 0.0290 | 34 | c.111 others(55): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NR6A1_chr9_124512275_124776311 | 124611774 | A | AGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0027 | 1 | 95 | 0.0105 | 34 | c.143 others(53): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 2/9 | chr9 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108164547 | C | CCAGCGGG others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0042 a0002c0007t0002g0192 |
2 | 45 | 0.0444 | 34 | c.346 others(53): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0070 | 1 | 35 | 0.0286 | 34 | c.-10 others(55): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0215 a0001c0001t0007g0087 |
2 | 77 | 0.0260 | 34 | c.*64 others(45): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 HG02135.hp1 NA19081.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show |
5 | 80 | 0.0625 | 34 | c.*64 others(45): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 76 | 0.0132 | 34 | c.*64 others(45): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0065 |
2 | 77 | 0.0260 | 34 | c.*64 others(45): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0217 a0001c0001t0007g0088 |
2 | 77 | 0.0260 | 34 | c.*64 others(45): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG03017.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0171a0003c0003t0014a0003c0003t0077others(3): Show | a0001c0001t0171g0145 a0003c0003t0014g0201 a0003c0003t0077g0074 others(3): Show |
6 | 114 | 0.0526 | 34 | c.502 others(53): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03225.hp1 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0108 a0006c0011t0001g0107 |
2 | 121 | 0.0165 | 34 | c.700 others(53): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
NRIP2_chr12_2820348_2840035 | 2835190 | T | TGTGTGTG others(27): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 NA19070.hp2 NA20905.hp1 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0004c0008t0002 | a0001c0002t0002g0003 a0004c0008t0002g0082 |
3 | 119 | 0.0252 | 34 | c.-20 others(43): Show |
NRIP2 | ENSG00000053702.15 | transcript | ENST00000337508.9 | protein_coding | 156 | chr12 | TogoVar | |||||||
NRIP2_chr12_2820348_2840035 | 2835190 | T | TGTGTGTG others(27): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02040.hp1 HG02129.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0002t0001g0038 a0001c0002t0002g0003 a0001c0003t0002g0005 others(1): Show |
8 | 124 | 0.0645 | 34 | c.-20 others(43): Show |
NRIP2 | ENSG00000053702.15 | transcript | ENST00000337508.9 | protein_coding | 156 | chr12 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33188910 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0031 | 1 | 92 | 0.0109 | 34 | c.206 others(53): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
NRP2_chr2_205677501_205803131 | 205784001 | G | GACACACA others(27): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0259 | 1 | 11 | 0.0909 | 34 | c.242 others(53): Show |
NRP2 | ENSG00000118257.17 | transcript | ENST00000357785.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50219956 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0035a0001c0001t0039a0001c0001t0059others(2): Show | a0001c0001t0035g0060 a0001c0001t0039g0042 a0001c0001t0059g0062 others(2): Show |
5 | 83 | 0.0602 | 34 | c.354 others(55): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50447737 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0010 | a0001c0002t0007g0093 a0001c0002t0010g0106 |
2 | 8 | 0.2500 | 34 | c.336 others(55): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50610642 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0066 | 1 | 16 | 0.0625 | 34 | c.132 others(53): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 8/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 7 | 0.1429 | 34 | c.833 others(53): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0001 | a0001c0001t0032g0007 a0001c0002t0001g0078 |
2 | 8 | 0.2500 | 34 | c.833 others(53): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AATAAAAA others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 7 | 0.1429 | 34 | c.833 others(53): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NSA2_chr5_74762249_74785113 | 74770512 | A | ATGTGTTG others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 400 | 0.0025 | 34 | c.343 others(48): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |