| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NOS1AP_chr1_162064691_162375475 | 162221530 | GCGCGCAC others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0003t0003others(2): Show | a0001c0001t0002g0146a0001c0001t0014g0083a0001c0003t0003g0084others(3): Show | 6 | 182 | 0.0330 | -8 | c.178 others(27): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162221532 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(4): Show | a0001c0001t0002g0053a0001c0001t0002g0103a0001c0001t0003g0099others(6): Show | 9 | 182 | 0.0495 | -8 | c.178 others(27): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162255490 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0026a0001c0001t0002g0064a0001c0001t0002g0066others(21): Show | 24 | 182 | 0.1319 | -8 | c.178 others(27): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162278664 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0028others(6): Show | a0001c0001t0002g0057a0001c0001t0002g0103a0001c0001t0020g0104others(18): Show | 21 | 182 | 0.1154 | -8 | c.178 others(25): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162289272 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01496.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0056a0001c0001t0002g0152others(5): Show | 8 | 182 | 0.0440 | -8 | c.270 others(25): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162294188 | GAAGGAAG others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01069.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0026a0001c0001t0001g0041a0001c0001t0001g0048others(19): Show | 22 | 182 | 0.1209 | -8 | c.271 others(25): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162362427 | GGTGACAG others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(23): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0026others(99): Show | 102 | 182 | 0.5604 | -8 | c.940 others(25): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1_chr12_117203142_117366626 | 117221130 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02165.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0027 | a0001c0001t0117a0001c0001t0125a0001c0006t0014others(7): Show | a0001c0001t0117g0067a0001c0001t0125g0166a0001c0006t0014g0125others(8): Show | 11 | 294 | 0.0374 | -8 | c.397 others(25): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 26/28 | chr12 | TogoVar | ||||||
| NOS1_chr12_117203142_117366626 | 117261178 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02165.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0006a0001c0009a0001c0027 | a0001c0006t0014a0001c0006t0027a0001c0006t0048others(4): Show | a0001c0006t0014g0125a0001c0006t0027g0070a0001c0006t0027g0097others(6): Show | 9 | 294 | 0.0306 | -8 | c.222 others(25): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 13/28 | chr12 | TogoVar | ||||||
| NOS1_chr12_117203142_117366626 | 117340873 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02886.hp2 NA18945.hp2 NA18950.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0123a0001c0002t0007a0001c0002t0019others(1): Show | a0001c0001t0123g0170a0001c0002t0007g0018a0001c0002t0007g0019others(3): Show | 6 | 294 | 0.0204 | -8 | c.-42 others(27): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
| NOS1_chr12_117203142_117366626 | 117359874 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02723.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0070a0001c0001t0100a0001c0004t0004others(1): Show | a0001c0001t0070g0052a0001c0001t0100g0054a0001c0004t0004g0053others(1): Show | 4 | 294 | 0.0136 | -8 | c.-42 others(27): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
| NOS1_chr12_117203142_117366626 | 117359876 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01175.hp2 others(4): Show |
a0001a0010 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0033others(4): Show | a0001c0001t0002g0281a0001c0001t0013g0196a0001c0001t0033g0194others(4): Show | 7 | 294 | 0.0238 | -8 | c.-42 others(27): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
| NOS1_chr12_117203142_117366626 | 117361858 | CACACACA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG02080.hp1 others(26): Show |
a0001a0007a0011 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0067others(22): Show | a0001c0001t0002g0065a0001c0001t0002g0076a0001c0001t0002g0089others(26): Show | 29 | 294 | 0.0986 | -8 | c.-77 others(17): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 233 | chr12 | TogoVar | ||||||
| NOS3_chr7_150986017_151019588 | 150987801 | TGTGTGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | NA18994.hp1 NA19062.hp1 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0131 | 3 | 382 | 0.0079 | -8 | c.-35 others(19): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3215 | chr7 | TogoVar | ||||||
| NOS3_chr7_150986017_151019588 | 151002383 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0017 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0095others(19): Show | 26 | 382 | 0.0681 | -8 | c.175 others(25): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NOSIP_chr19_49550468_49585556 | 49573790 | TTATGTAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0082others(23): Show | 27 | 304 | 0.0888 | -8 | c.-2+ others(23): Show |
NOSIP | ENSG00000142546.14 | transcript | ENST00000596358.6 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
| NOSTRIN_chr2_168797637_168870514 | 168841235 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0051a0001c0001t0001g0052others(2): Show | 6 | 326 | 0.0184 | -8 | c.505 others(25): Show |
NOSTRIN | ENSG00000163072.16 | transcript | ENST00000317647.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136515848 | TGGGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0181a0001c0001t0001g0186a0001c0001t0001g0201others(198): Show | 203 | 324 | 0.6265 | -8 | c.166 others(25): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 10/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136524634 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0005others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0181a0001c0001t0001g0186a0001c0001t0001g0213others(170): Show | 175 | 324 | 0.5401 | -8 | c.141 others(23): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535512 | GTGGGTGG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0186a0001c0001t0002g0166a0001c0001t0003g0247others(6): Show | 9 | 324 | 0.0278 | -8 | c.140 others(25): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535722 | GTGGGTGG others(1): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02451.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0004a0001c0008t0001 | a0001c0001t0001g0213a0001c0001t0001g0256a0001c0006t0004g0067others(1): Show | 4 | 324 | 0.0124 | -8 | c.140 others(25): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH2NLA_chr1_146143865_146234021 | 146159393 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG03453.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0029 | a0001c0001t0005g0044a0001c0001t0007g0015a0001c0001t0029g0028 | 3 | 60 | 0.0500 | -8 | c.299 others(25): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
| NOTCH2NLA_chr1_146143865_146234021 | 146192798 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01099.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0041others(23): Show | 26 | 60 | 0.4333 | -8 | c.-44 others(25): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| NOTCH2NLB_chr1_148595285_148684746 | 148604950 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0008a0001c0001t0017a0003c0004t0003others(1): Show | a0001c0001t0008g0019a0001c0001t0017g0024a0003c0004t0003g0020others(2): Show | 5 | 36 | 0.1389 | -8 | c.*21 others(19): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 5/5 | 2125 | chr1 | TogoVar | |||||
| NOTCH2NLC_chr1_149385621_149476833 | 149460854 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
a0002a0003a0004others(9): Show | a0002c0002a0003c0003a0004c0004others(12): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(27): Show | a0002c0002t0001g0206a0002c0002t0001g0225a0002c0002t0004g0003others(40): Show | 44 | 260 | 0.1692 | -8 | c.470 others(25): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOTCH2NLR_chr1_120718945_120799851 | 120742312 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03688.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | 164 | 0.0244 | -8 | c.73+ others(25): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOTCH2NLR_chr1_120718945_120799851 | 120748113 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(121): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(121): Show | 124 | 164 | 0.7561 | -8 | c.74- others(25): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOTCH2NLR_chr1_120718945_120799851 | 120790535 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01978.hp2 HG02071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0080others(10): Show | 13 | 164 | 0.0793 | -8 | c.416 others(25): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOTCH2_chr1_119906553_120074662 | 119932607 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(24): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0002a0001c0004t0004a0001c0005t0003others(4): Show | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(23): Show | 27 | 168 | 0.1607 | -8 | c.365 others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119957829 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0003t0003 | a0001c0002t0002g0033a0001c0002t0002g0035a0001c0002t0002g0036others(4): Show | 7 | 168 | 0.0417 | -8 | c.202 others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119958714 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | 168 | 0.0119 | -8 | c.202 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119994523 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0018others(1): Show | 5 | 168 | 0.0298 | -8 | c.751 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119994527 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0004a0001c0005t0001others(2): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0078others(5): Show | 8 | 168 | 0.0476 | -8 | c.751 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119994529 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(34): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(11): Show | a0001c0001t0001g0056a0001c0001t0001g0070a0001c0001t0001g0072others(34): Show | 37 | 168 | 0.2202 | -8 | c.751 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119999917 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG02559.hp2 |
a0001a0008 | a0001c0012a0001c0013a0008c0027 | a0001c0012t0001a0001c0013t0001a0008c0027t0001 | a0001c0012t0001g0076a0001c0013t0001g0108a0008c0027t0001g0142 | 3 | 168 | 0.0179 | -8 | c.416 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119999972 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0061a0001c0002t0002g0048 | 2 | 168 | 0.0119 | -8 | c.416 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 119999976 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(2): Show | a0001c0002t0002a0001c0004t0005a0001c0007t0004others(2): Show | a0001c0002t0002g0011a0001c0002t0002g0013a0001c0002t0002g0018others(5): Show | 8 | 168 | 0.0476 | -8 | c.416 others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 120051228 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0005t0003g0156others(2): Show | 5 | 168 | 0.0298 | -8 | c.73+ others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
| NOTCH2_chr1_119906553_120074662 | 120051267 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0013a0001c0002t0002g0045a0001c0002t0002g0046others(1): Show | 4 | 168 | 0.0238 | -8 | c.73+ others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
| NOTCH3_chr19_15154038_15205995 | 15162765 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0009others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(35): Show | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0020others(160): Show | 163 | 340 | 0.4794 | -8 | c.581 others(25): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 31/32 | chr19 | TogoVar | ||||||
| NOTCH3_chr19_15154038_15205995 | 15186375 | TTGTATGT others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp1 NA18990.hp2 NA19058.hp1 |
a0002a0013 | a0002c0003a0013c0052 | a0002c0003t0003a0002c0003t0004a0013c0052t0004 | a0002c0003t0003g0126a0002c0003t0004g0059a0013c0052t0004g0045 | 3 | 340 | 0.0088 | -8 | c.195 others(25): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 12/32 | chr19 | TogoVar | ||||||
| NOTCH3_chr19_15154038_15205995 | 15186379 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(71): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0157others(71): Show | 74 | 340 | 0.2177 | -8 | c.195 others(25): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 12/32 | chr19 | TogoVar | ||||||
| NOTCH4_chr6_32189843_32229067 | 32211258 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01175.hp2 others(35): Show |
a0006a0016a0027others(4): Show | a0006c0005a0006c0021a0016c0019others(5): Show | a0006c0005t0001a0006c0021t0001a0016c0019t0001others(6): Show | a0006c0005t0001g0002a0006c0005t0001g0008a0006c0005t0001g0042others(15): Show | 38 | 437 | 0.0870 | -8 | c.268 others(25): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| NOTCH4_chr6_32189843_32229067 | 32211594 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp1 others(23): Show |
a0002a0004a0009others(6): Show | a0002c0002a0002c0007a0004c0009others(8): Show | a0002c0002t0002a0002c0007t0002a0004c0009t0002others(9): Show | a0002c0002t0002g0101a0002c0007t0002g0137a0004c0009t0002g0070others(15): Show | 26 | 437 | 0.0595 | -8 | c.268 others(25): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| NOTCH4_chr6_32189843_32229067 | 32228045 | GGGTGACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02145.hp2 HG02486.hp2 others(11): Show |
a0001a0004a0033others(1): Show | a0001c0041a0001c0064a0004c0009others(3): Show | a0001c0041t0001a0001c0064t0001a0004c0009t0001others(3): Show | a0001c0041t0001g0231a0001c0064t0001g0230a0004c0009t0001g0226others(8): Show | 14 | 437 | 0.0320 | -8 | c.-41 others(19): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 3979 | chr6 | TogoVar | ||||||
| NOVA1_chr14_26438090_26603033 | 26566347 | TTATATAC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0119a0001c0001t0002g0118a0001c0001t0002g0120others(5): Show | 8 | 244 | 0.0328 | -8 | c.280 others(27): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| NOVA1_chr14_26438090_26603033 | 26572725 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0081a0001c0001t0003g0024a0001c0001t0005g0212others(8): Show | 11 | 244 | 0.0451 | -8 | c.280 others(27): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| NOVA1_chr14_26438090_26603033 | 26583881 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02080.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0175a0001c0001t0002g0118a0001c0001t0002g0123others(6): Show | 9 | 244 | 0.0369 | -8 | c.280 others(27): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| NOVA2_chr19_45928734_45978865 | 45964348 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0075a0001c0001t0003g0091a0001c0001t0004g0072others(16): Show | 19 | 402 | 0.0473 | -8 | c.86- others(23): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| NOX1_chrX_100838324_100879359 | 100853242 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 302 | 0.0033 | -8 | c.805 others(25): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar |