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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRCAM_chr7_108142649_108461436 | 108164547 | C | CCAGCGGG others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001a0005 | a0001c0003a0005c0025 | a0001c0003t0002a0005c0025t0006 | a0001c0003t0002g0108 a0005c0025t0006g0097 |
2 | 45 | 0.0444 | 19 | c.346 others(38): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108335434 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03098.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0002 | a0001c0001t0001g0087 a0001c0002t0001g0073 a0001c0009t0002g0081 |
3 | 45 | 0.0667 | 19 | c.-17 others(40): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 2/32 | chr7 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90280225 | G | GCCAGTCC others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0008 | a0001c0008t0078a0001c0008t0079 | a0001c0008t0078g0251 a0001c0008t0079g0250 |
2 | 342 | 0.0058 | 19 | c.329 others(38): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 12/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90299218 | G | GTGTTTTT others(12): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0037 | 1 | 342 | 0.0029 | 19 | c.154 others(36): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90330222 | T | TAAATAAA others(12): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0014 | 1 | 119 | 0.0084 | 19 | c.64+ others(34): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 1/13 | chr14 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129754464 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0191 |
2 | 34 | 0.0588 | 19 | c.134 others(36): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 NA19086.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0266 a0001c0003t0001g0009 |
2 | 77 | 0.0260 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 NA18983.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0273 a0001c0003t0001g0018 |
2 | 77 | 0.0260 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0335 | 1 | 76 | 0.0132 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRG1_chr8_32543311_32779046 | 32559245 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01168.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0020a0001c0001t0046a0001c0001t0049others(3): Show | a0001c0001t0020g0057 a0001c0001t0046g0064 a0001c0001t0049g0058 others(4): Show |
7 | 94 | 0.0745 | 19 | c.100 others(38): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0013a0001c0001t0066a0001c0001t0093others(2): Show | a0001c0001t0013g0231 a0001c0001t0066g0008 a0001c0001t0093g0228 others(2): Show |
5 | 113 | 0.0442 | 19 | c.502 others(38): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRG1_chr8_32543311_32779046 | 32725464 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0233 | 1 | 61 | 0.0164 | 19 | c.503 others(36): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRG2_chr5_139841781_140048299 | 139960754 | A | ACAGGTAG others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0184 | 1 | 186 | 0.0054 | 19 | c.701 others(38): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0130 |
2 | 121 | 0.0165 | 19 | c.700 others(38): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
NRG4_chr15_75935936_76017424 | 76017155 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0141 | 1 | 141 | 0.0071 | 19 | c.-49 others(30): Show |
NRG4 | ENSG00000169752.17 | transcript | ENST00000394907.8 | protein_coding | 4732 | chr15 | TogoVar | |||||||
NRGN_chr11_124734942_124752210 | 124735138 | T | TCTGCTTA others(12): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 19 | c.-49 others(30): Show |
NRGN | ENSG00000154146.13 | transcript | ENST00000284292.11 | protein_coding | 4803 | chr11 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15019470 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18973.hp1 NA18998.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0044 | a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0049 others(2): Show |
5 | 60 | 0.0833 | 19 | c.-45 others(38): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG02602.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0014 | a0001c0003t0003a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0003t0003g0130 a0001c0005t0001g0073 a0001c0005t0003g0103 others(2): Show |
5 | 156 | 0.0321 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0003a0001c0003t0003a0001c0005t0003 | a0001c0002t0003g0023 a0001c0003t0003g0112 a0001c0005t0003g0033 |
3 | 154 | 0.0195 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0220 | 1 | 152 | 0.0066 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199390 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18986.hp2 NA18995.hp2 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0026 | a0001c0003t0002a0001c0003t0003a0001c0005t0003others(1): Show | a0001c0003t0002g0122 a0001c0003t0003g0037 a0001c0003t0003g0038 others(2): Show |
5 | 222 | 0.0225 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33337221 | T | TCTCCACC others(12): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0099 | 1 | 21 | 0.0476 | 19 | c.-28 others(30): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 2555 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33337221 | T | TCTCCACC others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0081 others(236): Show |
239 | 259 | 0.9228 | 19 | c.-28 others(30): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 2555 | chr10 | TogoVar | |||||||
NRSN1_chr6_24121215_24152530 | 24142191 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0062 | 1 | 206 | 0.0049 | 19 | c.190 others(36): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24142212 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0168 | 1 | 381 | 0.0026 | 19 | c.190 others(36): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50019641 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0002a0001c0012t0041 | a0001c0003t0002g0022 a0001c0012t0041g0102 |
2 | 37 | 0.0541 | 19 | c.412 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50447737 | T | TTTATATA others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 7 | 0.1429 | 19 | c.336 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50489881 | G | GATAACTG others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0036 a0001c0001t0002g0035 a0001c0001t0002g0046 others(16): Show |
19 | 116 | 0.1638 | 19 | c.307 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 15/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50501426 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0107 | 1 | 114 | 0.0088 | 19 | c.249 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 13/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0051 a0001c0002t0013g0110 |
2 | 8 | 0.2500 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 7 | 0.1429 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03486.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0001 | a0001c0001t0001g0036 a0005c0013t0001g0111 |
2 | 8 | 0.2500 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50865658 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0004 | 1 | 27 | 0.0370 | 19 | c.832 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78173709 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0004 | 1 | 12 | 0.0833 | 19 | c.-70 others(38): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSA2_chr5_74762249_74785113 | 74784510 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0074 | 1 | 238 | 0.0042 | 19 | c.*78 others(30): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 4398 | chr5 | TogoVar | |||||||
NSD1_chr5_177128773_177305213 | 177158290 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0244 | 1 | 252 | 0.0040 | 19 | c.927 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177207593 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0127 | 1 | 102 | 0.0098 | 19 | c.123 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NSG1_chr4_4382102_4424058 | 4387753 | G | GATAAGGT others(12): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 392 | 0.0026 | 19 | c.125 others(29): Show |
NSG1 | ENSG00000168824.15 | transcript | ENST00000621129.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSL1_chr1_212721153_212796777 | 212724958 | G | GTGTCTCT others(12): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG03491.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0019a0002c0002t0098others(1): Show | a0002c0002t0012g0270 a0002c0002t0012g0271 a0002c0002t0012g0272 others(8): Show |
12 | 362 | 0.0331 | 19 | c.*13 others(32): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 1194 | chr1 | TogoVar | |||||||
NSL1_chr1_212721153_212796777 | 212724960 | G | GTCTCTGC others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(81): Show |
a0002a0003a0005 | a0002c0002a0002c0009a0003c0003others(1): Show | a0002c0002t0035a0002c0002t0045a0002c0002t0065others(35): Show | a0002c0002t0035g0263 a0002c0002t0035g0264 a0002c0002t0045g0173 others(76): Show |
84 | 362 | 0.2320 | 19 | c.*13 others(32): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 1192 | chr1 | TogoVar | |||||||
NSL1_chr1_212721153_212796777 | 212744164 | T | TGCCTGGC others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0065 | 1 | 362 | 0.0028 | 19 | c.500 others(36): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
NSL1_chr1_212721153_212796777 | 212754769 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03195.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0026a0002c0002t0093a0002c0002t0094 | a0002c0002t0026g0119 a0002c0002t0093g0118 a0002c0002t0094g0117 |
3 | 155 | 0.0194 | 19 | c.500 others(38): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125170376 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 17 | 0.0588 | 19 | c.265 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125333505 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0219 |
2 | 46 | 0.0435 | 19 | c.419 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125367509 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 15 | 0.0667 | 19 | c.*62 others(28): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 390 | chr8 | TogoVar | |||||||
NSMCE3_chr15_29259989_29274822 | 29264154 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02040.hp2 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0000 a0001c0001t0009g0000 |
4 | 79 | 0.0506 | 19 | c.*46 others(30): Show |
NSMCE3 | ENSG00000185115.6 | transcript | ENST00000332303.6 | protein_coding | 834 | chr15 | TogoVar | |||||||
NSRP1_chr17_30111816_30191475 | 30122386 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 231 | 0.0043 | 19 | c.114 others(36): Show |
NSRP1 | ENSG00000126653.18 | transcript | ENST00000247026.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
NSUN2_chr5_6594239_6638044 | 6611448 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00673.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0274 a0001c0001t0001g0324 a0001c0001t0001g0326 others(6): Show |
12 | 162 | 0.0741 | 19 | c.109 others(36): Show |
NSUN2 | ENSG00000037474.15 | transcript | ENST00000264670.11 | protein_coding | 10/18 | chr5 | TogoVar | |||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0016 | 1 | 235 | 0.0043 | 19 | c.754 others(34): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0164 | 1 | 235 | 0.0043 | 19 | c.754 others(34): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |