| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NR5A2_chr1_200022710_200182415 | 200083967 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01256.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0024others(4): Show | a0001c0001t0002g0168a0001c0001t0002g0169a0001c0001t0006g0059others(7): Show | 10 | 286 | 0.0350 | 9 | c.111 others(30): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NR5A2_chr1_200022710_200182415 | 200127697 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19005.hp2 NA19030.hp2 |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0001a0003c0006t0006 | a0001c0004t0001g0053a0001c0004t0001g0054a0003c0006t0006g0003 | 3 | 286 | 0.0105 | 9 | c.137 others(28): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
| NR6A1_chr9_124512275_124776311 | 124666275 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0042others(1): Show | a0001c0001t0024g0012a0001c0001t0024g0013a0001c0001t0025g0014others(3): Show | 6 | 234 | 0.0256 | 9 | c.142 others(28): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
| NRAP_chr10_113583714_113669041 | 113644147 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00639.hp2 others(47): Show |
a0004a0005a0006others(11): Show | a0004c0005a0004c0021a0004c0075others(17): Show | a0004c0005t0001a0004c0021t0001a0004c0075t0001others(17): Show | a0004c0005t0001g0104a0004c0005t0001g0106a0004c0005t0001g0167others(43): Show | 50 | 398 | 0.1256 | 9 | c.111 others(28): Show |
NRAP | ENSG00000197893.14 | transcript | ENST00000359988.4 | protein_coding | 11/41 | chr10 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108164547 | C | CCAGCGGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(28): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(126): Show | 129 | 208 | 0.6202 | 9 | c.346 others(28): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108195451 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(126): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(22): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(126): Show | 129 | 208 | 0.6202 | 9 | c.146 others(26): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 15/32 | chr7 | TogoVar | ||||||
| NRDE2_chr14_90262860_90336941 | 90265688 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0082a0001c0001t0083others(5): Show | a0001c0001t0014g0207a0001c0001t0014g0208a0001c0001t0014g0217others(7): Show | 10 | 344 | 0.0291 | 9 | c.*12 others(22): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 2171 | chr14 | TogoVar | ||||||
| NRF1_chr7_129606720_129762076 | 129731614 | G | GTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0110a0001c0001t0008g0111a0001c0001t0008g0112others(1): Show | 4 | 384 | 0.0104 | 9 | c.134 others(28): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NRF1_chr7_129606720_129762076 | 129754464 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0205a0001c0001t0002g0022a0001c0001t0002g0056others(60): Show | 63 | 384 | 0.1641 | 9 | c.134 others(26): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NRG1_chr8_32543311_32779046 | 32771715 | A | AAAAAAAA others(2): Show |
3_prime_UTR_variant | MODIFIER | NA18747.hp2 NA18982.hp1 NA18984.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0022a0002c0002t0030a0002c0002t0146 | a0002c0002t0022g0020a0002c0002t0022g0029a0002c0002t0030g0127others(2): Show | 5 | 244 | 0.0205 | 9 | c.*73 others(20): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 12/12 | 7315 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| NRG1_chr8_32543311_32779046 | 32771715 | A | AAAAAAAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01361.hp1 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0001c0001t0040a0002c0002t0033others(1): Show | a0001c0001t0024g0184a0001c0001t0024g0234a0001c0001t0040g0064others(3): Show | 6 | 244 | 0.0246 | 9 | c.*73 others(20): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 12/12 | 7315 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01255.hp2 HG01993.hp1 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(11): Show | 14 | 188 | 0.0745 | 9 | c.700 others(28): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
| NRG3_chr10_81870194_82992178 | 81915491 | C | CTTAGTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0018others(27): Show | 30 | 66 | 0.4546 | 9 | c.823 others(28): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NRG3_chr10_81870194_82992178 | 82408087 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03486.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0004 | a0001c0001t0001g0051a0001c0001t0005g0003a0002c0003t0004g0017 | 3 | 66 | 0.0455 | 9 | c.953 others(28): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NRK_chrX_105817539_105963610 | 105941592 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 219 | 0.0046 | 9 | c.395 others(28): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 23/28 | chrX | TogoVar | ||||||
| NRN1_chr6_5992999_6011925 | 6000748 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02027.hp2 HG02040.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0120others(1): Show | 21 | 462 | 0.0455 | 9 | c.201 others(26): Show |
NRN1 | ENSG00000124785.9 | transcript | ENST00000244766.7 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
| NRP1_chr10_33172493_33339667 | 33199390 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02976.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0022 | a0001c0001t0002a0001c0006t0005a0003c0022t0004 | a0001c0001t0002g0031a0001c0006t0005g0060a0001c0006t0005g0061others(4): Show | 7 | 262 | 0.0267 | 9 | c.186 others(28): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
| NRP2_chr2_205677501_205803131 | 205795361 | G | GTATTATT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0010a0001c0002t0005others(11): Show | a0001c0001t0005g0008a0001c0001t0005g0025a0001c0001t0005g0034others(39): Show | 43 | 352 | 0.1222 | 9 | c.*32 others(18): Show |
NRP2 | ENSG00000118257.17 | transcript | ENST00000357785.10 | protein_coding | 17/17 | 334 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| NRSN1_chr6_24121215_24152530 | 24134041 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18945.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0011 | a0001c0001t0006g0141a0001c0001t0010g0253a0001c0001t0011g0240 | 3 | 406 | 0.0074 | 9 | c.-9- others(22): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| NRSN1_chr6_24121215_24152530 | 24142191 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02129.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0094a0001c0001t0001g0116others(13): Show | 16 | 406 | 0.0394 | 9 | c.190 others(26): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| NRSN1_chr6_24121215_24152530 | 24142213 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01978.hp1 HG02074.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0004g0011a0001c0001t0004g0053a0001c0001t0004g0194others(9): Show | 14 | 406 | 0.0345 | 9 | c.190 others(26): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| NRSN2_chr20_342111_359862 | 351963 | T | TCAGGATA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG03130.hp1 others(3): Show |
a0002 | a0002c0004a0002c0013 | a0002c0004t0007a0002c0004t0009a0002c0013t0007 | a0002c0004t0007g0041a0002c0004t0007g0069a0002c0004t0007g0087others(2): Show | 6 | 414 | 0.0145 | 9 | c.190 others(26): Show |
NRSN2 | ENSG00000125841.13 | transcript | ENST00000382285.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NRTN_chr19_5800067_5833324 | 5823766 | A | AGCTGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02683.hp2 HG02735.hp1 HG02738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0015a0001c0001t0001g0093a0001c0001t0001g0117others(9): Show | 13 | 402 | 0.0323 | 9 | c.-39 others(18): Show |
NRTN | ENSG00000171119.3 | transcript | ENST00000303212.3 | protein_coding | 2/3 | 387 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NRXN1_chr2_49913503_51037132 | 50019641 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02647.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0013 | a0001c0001t0036a0001c0001t0039a0001c0002t0001others(2): Show | a0001c0001t0036g0062a0001c0001t0039g0044a0001c0002t0001g0080others(2): Show | 5 | 116 | 0.0431 | 9 | c.412 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50019947 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(4): Show | a0001c0001t0001g0053a0001c0001t0010g0025a0001c0001t0019g0072others(5): Show | 8 | 116 | 0.0690 | 9 | c.412 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50209854 | C | CTCAGTTG others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01099.hp1 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0053a0001c0001t0002g0033a0001c0001t0002g0035others(42): Show | 45 | 116 | 0.3879 | 9 | c.354 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50281322 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0010 | a0001c0001t0005g0046a0001c0002t0010g0095 | 2 | 116 | 0.0172 | 9 | c.336 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50352776 | T | TAATATAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0001t0039others(2): Show | a0001c0001t0001g0055a0001c0001t0020g0063a0001c0001t0039g0044others(2): Show | 5 | 116 | 0.0431 | 9 | c.336 others(32): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50373291 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01346.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0040a0001c0001t0001g0055a0001c0001t0004g0010others(12): Show | 15 | 116 | 0.1293 | 9 | c.336 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50551044 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(3): Show | a0001c0001t0001g0040a0001c0001t0016g0021a0001c0001t0020g0073others(3): Show | 6 | 116 | 0.0517 | 9 | c.175 others(28): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 9/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50606606 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02132.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0002g0035a0001c0001t0005g0046a0001c0001t0011g0069others(9): Show | 12 | 116 | 0.1035 | 9 | c.132 others(30): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 8/22 | chr2 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50829999 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0055a0001c0001t0057others(6): Show | a0001c0001t0002g0035a0001c0001t0055g0031a0001c0001t0057g0038others(6): Show | 9 | 116 | 0.0776 | 9 | c.832 others(28): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
| NRXN2_chr11_64601174_64728197 | 64724975 | C | CACACTCA others(2): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02970.hp2 NA20752.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0005a0001c0003t0001a0002c0004t0015 | a0001c0002t0005g0055a0001c0003t0001g0104a0002c0004t0015g0109 | 3 | 308 | 0.0097 | 9 | c.-22 others(20): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 1779 | chr11 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 78225951 | T | TTGGTGTG others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0004t0005a0001c0004t0006 | a0001c0001t0014g0004a0001c0004t0005g0003a0001c0004t0006g0021 | 3 | 24 | 0.1250 | 9 | c.-70 others(30): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | chr14 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 78633251 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0013a0001c0001t0014a0001c0009t0003 | a0001c0001t0013g0007a0001c0001t0014g0004a0001c0009t0003g0017 | 3 | 24 | 0.1250 | 9 | c.758 others(28): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 78927150 | C | CTCTTGAG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0018a0001c0001t0003g0013a0001c0001t0008g0008others(2): Show | 5 | 24 | 0.2083 | 9 | c.227 others(30): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | chr14 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 79219731 | G | GTCATATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0002t0007others(2): Show | a0001c0001t0002g0018a0001c0001t0008g0008a0001c0002t0007g0009others(2): Show | 5 | 24 | 0.2083 | 9 | c.326 others(32): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 79223564 | A | AAATCACA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0007others(1): Show | a0001c0001t0002g0018a0001c0001t0008g0008a0001c0002t0007g0009others(1): Show | 4 | 24 | 0.1667 | 9 | c.326 others(32): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 79257472 | A | ATGGTGGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0018a0001c0001t0008g0008 | 2 | 24 | 0.0833 | 9 | c.326 others(32): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 79590416 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG03225.hp2 |
a0001 | a0001c0003a0001c0006a0001c0007 | a0001c0003t0004a0001c0006t0001a0001c0007t0002 | a0001c0003t0004g0015a0001c0006t0001g0023a0001c0007t0002g0010 | 3 | 24 | 0.1250 | 9 | c.344 others(30): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 79652401 | T | TACTATAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0010a0001c0006t0017a0001c0007t0002others(2): Show | a0001c0001t0010g0006a0001c0006t0017g0001a0001c0007t0002g0010others(2): Show | 5 | 24 | 0.2083 | 9 | c.344 others(30): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NRXN3_chr14_78165373_79873291 | 79819482 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 HG03516.hp2 |
a0001 | a0001c0003a0001c0007a0001c0010 | a0001c0003t0004a0001c0007t0002a0001c0010t0001 | a0001c0003t0004g0015a0001c0007t0002g0020a0001c0010t0001g0012 | 3 | 24 | 0.1250 | 9 | c.409 others(30): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NSD1_chr5_177128773_177305213 | 177158241 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01175.hp2 others(4): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0001a0002c0002t0003a0002c0002t0014others(3): Show | a0002c0002t0001g0078a0002c0002t0003g0048a0002c0002t0003g0139others(4): Show | 7 | 298 | 0.0235 | 9 | c.927 others(28): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NSD1_chr5_177128773_177305213 | 177158293 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(13): Show |
a0001a0002a0018 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(9): Show | a0001c0001t0004g0256a0001c0001t0004g0286a0001c0001t0008g0189others(13): Show | 16 | 298 | 0.0537 | 9 | c.927 others(28): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NSD1_chr5_177128773_177305213 | 177264028 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00673.hp1 others(25): Show |
a0001a0013a0015 | a0001c0001a0001c0004a0013c0023others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0002g0293a0001c0001t0004g0187a0001c0001t0004g0196others(25): Show | 28 | 298 | 0.0940 | 9 | c.514 others(28): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NSD2_chr4_1866393_1987192 | 1878252 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0094 | 2 | 130 | 0.0154 | 9 | c.-30 others(26): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| NSD2_chr4_1866393_1987192 | 1934874 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04184.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0018a0001c0001t0001g0129a0001c0001t0013g0073 | 3 | 130 | 0.0231 | 9 | c.155 others(26): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 6/21 | chr4 | TogoVar | ||||||
| NSD3_chr8_38264704_38387271 | 38364277 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00735.hp1 others(16): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0174a0001c0001t0002g0001others(15): Show | 19 | 226 | 0.0841 | 9 | c.-44 others(28): Show |
NSD3 | ENSG00000147548.17 | transcript | ENST00000317025.13 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
| NSD3_chr8_38264704_38387271 | 38366418 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01978.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0013a0001c0001t0002g0030a0001c0001t0002g0031others(8): Show | 11 | 226 | 0.0487 | 9 | c.-45 others(28): Show |
NSD3 | ENSG00000147548.17 | transcript | ENST00000317025.13 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
| NSG2_chr5_174040706_174114179 | 174041379 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0032a0001c0001t0002g0230others(31): Show | 34 | 294 | 0.1157 | 9 | c.-44 others(20): Show |
NSG2 | ENSG00000170091.11 | transcript | ENST00000303177.8 | protein_coding | 4326 | chr5 | TogoVar |