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 | 108177665 | ATACGTGT others(11): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0040 | 1 | 208 | 0.0048 | -18 | c.297 others(35): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 26/32 | chr7 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108378632 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG04204.hp1 |
a0001a0002 | a0001c0009a0002c0007 | a0001c0009t0002a0002c0007t0002 | a0001c0009t0002g0164 a0002c0007t0002g0003 |
2 | 208 | 0.0096 | -18 | c.-17 others(39): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 2/32 | chr7 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90301280 | AGAAGGTG others(11): Show |
A | conservative_inframe_deletion | MODERATE | NA19083.hp1 | a0016 | a0016c0022 | a0016c0022t0146 | a0016c0022t0146g0102 | 1 | 344 | 0.0029 | -18 | c.148 others(27): Show |
p.Met others(13): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/14 | 1540/14008 | 1486/3495 | 496/1164 | chr14 | TogoVar | |||
NRF1_chr7_129606720_129762076 | 129640798 | CACAATTT others(11): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 a0001c0001t0002g0154 |
2 | 384 | 0.0052 | -18 | c.-6- others(35): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129685556 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 384 | 0.0026 | -18 | c.466 others(35): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129719497 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(227): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0055 others(227): Show |
230 | 384 | 0.5990 | -18 | c.122 others(37): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NRG1_chr8_32543311_32779046 | 32547590 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(84): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0002others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(70): Show | a0001c0001t0002g0107 a0001c0001t0002g0179 a0001c0001t0002g0243 others(84): Show |
87 | 244 | 0.3566 | -18 | c.-11 others(29): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 720 | chr8 | TogoVar | |||||||
NRG3_chr10_81870194_82992178 | 82021783 | AGTATGTG others(11): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02809.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0004 | a0001c0001t0001g0029 a0001c0001t0005g0023 a0002c0003t0004g0043 |
3 | 66 | 0.0455 | -18 | c.823 others(39): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82102074 | ACATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0004 | a0001c0001t0001g0057 a0002c0003t0004g0047 |
2 | 66 | 0.0303 | -18 | c.823 others(39): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRG4_chr15_75935936_76017424 | 75942786 | TTTTCATA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0047others(1): Show | a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0010g0172 others(5): Show |
8 | 368 | 0.0217 | -18 | c.*83 others(27): Show |
NRG4 | ENSG00000169752.17 | transcript | ENST00000394907.8 | protein_coding | 6/6 | 834 | chr15 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 14975203 | AATCAATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00642.hp1 others(54): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0035a0001c0001t0050others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0020 others(52): Show |
57 | 398 | 0.1432 | -18 | c.-33 others(37): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 14987300 | CTGCTCAG others(11): Show |
C | intron_variant | MODIFIER | NA18988.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 a0001c0001t0004g0105 |
2 | 398 | 0.0050 | -18 | c.-33 others(39): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15019470 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03195.hp1 others(1): Show |
a0001a0005a0013 | a0001c0001a0005c0006a0013c0012 | a0001c0001t0001a0001c0001t0011a0005c0006t0001others(1): Show | a0001c0001t0001g0125 a0001c0001t0011g0130 a0005c0006t0001g0124 others(1): Show |
4 | 398 | 0.0101 | -18 | c.-45 others(37): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRK_chrX_105817539_105963610 | 105950527 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0030 | 1 | 219 | 0.0046 | -18 | c.451 others(35): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NRL_chr14_24073662_24119949 | 24091119 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0223 |
3 | 376 | 0.0080 | -18 | c.-27 others(35): Show |
NRL | ENSG00000129535.13 | transcript | ENST00000561028.6 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
NRSN2_chr20_342111_359862 | 350659 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0055 | 1 | 414 | 0.0024 | -18 | c.189 others(33): Show |
NRSN2 | ENSG00000125841.13 | transcript | ENST00000382285.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 49920697 | CGTGTGTG others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0017a0001c0001t0021others(9): Show | a0001c0001t0005g0046 a0001c0001t0017g0065 a0001c0001t0017g0066 others(14): Show |
17 | 116 | 0.1466 | -18 | c.*12 others(29): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 23/23 | 1229 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50026859 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0114 | 1 | 116 | 0.0086 | -18 | c.412 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50098830 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0064 | 1 | 116 | 0.0086 | -18 | c.354 others(37): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50166307 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 116 | 0.0086 | -18 | c.354 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50177774 | ACTCTCTC others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0043a0001c0002t0008 | a0001c0001t0005g0046 a0001c0001t0043g0056 a0001c0002t0008g0078 |
3 | 116 | 0.0259 | -18 | c.354 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50239662 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 116 | 0.0086 | -18 | c.336 others(37): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50329611 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 116 | 0.0086 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50329615 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0098 | 1 | 116 | 0.0086 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50329659 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0055a0001c0003t0051 | a0001c0001t0055g0031 a0001c0003t0051g0034 |
2 | 116 | 0.0172 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50354554 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0026 | a0001c0002t0003g0099 a0001c0003t0026g0006 |
2 | 116 | 0.0172 | -18 | c.336 others(41): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50381522 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0030 a0001c0001t0022g0004 |
2 | 116 | 0.0172 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50399789 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0058 | a0001c0001t0009g0041 a0001c0001t0058g0067 |
2 | 116 | 0.0172 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50420962 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0010 | a0001c0010t0063 | a0001c0010t0063g0059 | 1 | 116 | 0.0086 | -18 | c.336 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50596285 | TTTTCTCA others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01123.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(22): Show | a0001c0001t0004g0010 a0001c0001t0006g0023 a0001c0001t0009g0051 others(22): Show |
25 | 116 | 0.2155 | -18 | c.132 others(39): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 8/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50610642 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0075 | 1 | 116 | 0.0086 | -18 | c.132 others(37): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 8/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50978271 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA18975.hp1 NA19012.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0090 a0001c0004t0007g0093 |
2 | 116 | 0.0172 | -18 | c.772 others(37): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 51032510 | AAGAGAGA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0095 | 1 | 116 | 0.0086 | -18 | c.-14 others(29): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 379 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78385290 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0015 | 1 | 24 | 0.0417 | -18 | c.757 others(37): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78627104 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0010 | a0001c0001t0003a0001c0001t0008a0001c0007t0002others(1): Show | a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0007t0002g0020 others(1): Show |
4 | 24 | 0.1667 | -18 | c.758 others(37): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78693656 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0012 | a0001c0001t0013g0007 a0001c0003t0012g0019 |
2 | 24 | 0.0833 | -18 | c.122 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79049022 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 24 | 0.0417 | -18 | c.326 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79054012 | GACATGGA others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0003g0013 a0001c0001t0013g0007 a0001c0001t0014g0004 others(7): Show |
10 | 24 | 0.4167 | -18 | c.326 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79234293 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG03486.hp1 NA19043.hp2 |
a0001a0002 | a0001c0003a0001c0004a0002c0005 | a0001c0003t0012a0001c0004t0005a0002c0005t0005 | a0001c0003t0012g0019 a0001c0004t0005g0003 a0002c0005t0005g0002 |
3 | 24 | 0.1250 | -18 | c.326 others(41): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79284343 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG03225.hp1 NA19043.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0007a0001c0002t0015a0001c0004t0005others(1): Show | a0001c0002t0007g0009 a0001c0002t0015g0011 a0001c0004t0005g0003 others(1): Show |
4 | 24 | 0.1667 | -18 | c.326 others(41): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79376214 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 24 | 0.0417 | -18 | c.326 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79486913 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0022 | 1 | 24 | 0.0417 | -18 | c.344 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79629814 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0010a0001c0006t0017a0001c0007t0002others(1): Show | a0001c0001t0010g0006 a0001c0006t0017g0001 a0001c0007t0002g0010 others(1): Show |
4 | 24 | 0.1667 | -18 | c.344 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79754503 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 24 | 0.0417 | -18 | c.401 others(39): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1872585 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0011 | 1 | 130 | 0.0077 | -18 | c.-30 others(35): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1872591 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA18949.hp2 NA18967.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0108 others(1): Show |
4 | 130 | 0.0308 | -18 | c.-30 others(35): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1951443 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01952.hp1 NA18945.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0010a0002c0007t0001 | a0001c0001t0001g0034 a0001c0001t0001g0081 a0001c0001t0001g0116 others(2): Show |
5 | 130 | 0.0385 | -18 | c.201 others(35): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1951507 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 130 | 0.0077 | -18 | c.201 others(35): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSDHL_chrX_152826063_152874729 | 152872534 | GTGTGTTT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0147 a0001c0007t0001g0173 |
2 | 324 | 0.0062 | -18 | c.*34 others(29): Show |
NSDHL | ENSG00000147383.11 | transcript | ENST00000370274.8 | protein_coding | 2806 | chrX | TogoVar | |||||||
NSDHL_chrX_152826063_152874729 | 152872678 | GGGTGTGG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 HG03704.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0005g0144 |
3 | 324 | 0.0093 | -18 | c.*35 others(29): Show |
NSDHL | ENSG00000147383.11 | transcript | ENST00000370274.8 | protein_coding | 2950 | chrX | TogoVar |