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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFASC_chr1_204865862_205027822 | 204877026 | ATAATATA others(35): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG02129.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0154 a0001c0001t0002g0163 a0001c0002t0001g0174 others(2): Show |
5 | 251 | 0.0199 | -42 | c.-91 others(59): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000539706.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51396038 | GTATATAT others(35): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0074 a0001c0014t0001g0282 |
2 | 227 | 0.0088 | -42 | c.*44 others(59): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232900676 | TCTCAGTC others(35): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0006 | a0002c0006t0030 | a0002c0006t0030g0106 | 1 | 360 | 0.0028 | -42 | c.829 others(59): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995148 | ATGTACAG others(35): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01099.hp2 others(10): Show |
a0002 | a0002c0006a0002c0009a0002c0010others(1): Show | a0002c0006t0006a0002c0009t0005a0002c0010t0003others(2): Show | a0002c0006t0006g0056 a0002c0009t0005g0084 a0002c0009t0005g0085 others(10): Show |
13 | 302 | 0.0430 | -42 | c.-75 others(61): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NIBAN2_chr9_127500343_127574073 | 127509772 | CCCCTCCT others(35): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0072 a0001c0001t0015g0025 |
2 | 316 | 0.0063 | -42 | c.116 others(59): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 9/13 | chr9 | TogoVar | |||||||
NIM1K_chr5_43187225_43285850 | 43284564 | TTTTTTTT others(35): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 290 | 0.0034 | -42 | c.*38 others(53): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 3715 | chr5 | TogoVar | |||||||
NIN_chr14_50714763_50836162 | 50835981 | CAAGCACA others(35): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0151 | 1 | 289 | 0.0035 | -42 | c.-50 others(53): Show |
NIN | ENSG00000100503.27 | transcript | ENST00000530997.7 | protein_coding | 4820 | chr14 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124028887 | GTATATAT others(35): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0002g0049 others(3): Show |
6 | 53 | 0.1132 | -42 | c.54+ others(61): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124616437 | CTTTTTTT others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0040 others(3): Show |
6 | 23 | 0.2609 | -42 | c.274 others(61): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1022671 | CGTCTCAG others(35): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 253 | 0.0040 | -42 | c.142 others(59): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1022870 | GCTAGTGG others(35): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp2 HG02135.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0002a0003c0004t0001others(2): Show | a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0100 others(17): Show |
21 | 306 | 0.0686 | -42 | c.142 others(59): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1025784 | TGTGGGTG others(35): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008 | a0001c0001t0005g0005 a0001c0001t0005g0085 a0001c0001t0005g0086 others(7): Show |
12 | 314 | 0.0382 | -42 | c.142 others(59): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKX2-6_chr8_23696740_23711756 | 23708481 | CCTTCTTC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 374 | 0.0027 | -42 | c.-19 others(53): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1726 | chr8 | TogoVar | |||||||
NLRP1_chr17_5509118_5589509 | 5585834 | TTTCCTCC others(35): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 402 | 0.0025 | -42 | c.-19 others(53): Show |
NLRP1 | ENSG00000091592.17 | transcript | ENST00000572272.6 | protein_coding | 1326 | chr17 | TogoVar | |||||||
NLRP3_chr1_247411173_247453817 | 247433669 | AGAGCTCT others(35): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(38): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0018a0001c0003t0001others(7): Show | a0001c0001t0003g0060 a0001c0001t0018g0308 a0001c0003t0001g0004 others(34): Show |
41 | 436 | 0.0940 | -42 | c.232 others(59): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NME7_chr1_169127531_169372797 | 169355255 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 173 | 0.0058 | -42 | c.3+1 others(57): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148964 | CCACACCC others(35): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 292 | 0.0034 | -42 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149096 | CCACACCC others(35): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 291 | 0.0034 | -42 | c.901 others(57): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150001 | TGCCGCCG others(35): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0088 | 1 | 292 | 0.0034 | -42 | c.902 others(57): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOL6_chr9_33456353_33478924 | 33475142 | ATATATAT others(35): Show |
A | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 429 | 0.0023 | -42 | c.-13 others(53): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1219 | chr9 | TogoVar | |||||||
NOL6_chr9_33456353_33478924 | 33475144 | ATATATAT others(35): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0101 | 1 | 433 | 0.0023 | -42 | c.-13 others(53): Show |
NOL6 | ENSG00000165271.17 | transcript | ENST00000297990.9 | protein_coding | 1221 | chr9 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117359876 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0170 | 1 | 58 | 0.0172 | -42 | c.-42 others(61): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47048972 | TTCTTTCT others(35): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 416 | 0.0024 | -42 | c.*33 others(53): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 3198 | chr19 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33543946 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0020a0002c0004t0009 | a0001c0001t0020g0073 a0002c0004t0009g0005 |
2 | 16 | 0.1250 | -42 | c.469 others(61): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5879807 | ACACACGC others(35): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0138 | 1 | 208 | 0.0048 | -42 | c.261 others(59): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | TogoVar | |||||||
NPIPB2_chr16_11922373_11947045 | 11927441 | GTTCCACC others(35): Show |
G | conservative_inframe_deletion | MODERATE | HG00423.hp1 HG00639.hp1 HG00642.hp2 others(97): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0002c0005others(7): Show | a0001c0003t0001a0002c0002t0001a0002c0005t0001others(7): Show | a0001c0003t0001g0238 a0002c0002t0001g0007 a0002c0002t0001g0011 others(78): Show |
100 | 400 | 0.2500 | -42 | c.108 others(51): Show |
p.Ser others(13): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 1125/1194 | 1084/1194 | 362/397 | chr16 | TogoVar | |||
NPIPB6_chr16_28337517_28368508 | 28342671 | CGCCTCTT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01167.hp1 HG01169.hp2 |
a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0006 | 3 | 360 | 0.0083 | -42 | c.117 others(51): Show |
p.Gln others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1737/1892 | 1172/1278 | 391/425 | chr16 | TogoVar | |||
NPIPB6_chr16_28337517_28368508 | 28342727 | GGGCGATT others(35): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(51): Show |
a0002a0010a0011others(2): Show | a0002c0002a0010c0009a0011c0012others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 others(39): Show |
54 | 360 | 0.1500 | -42 | c.111 others(51): Show |
p.Lys others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1681/1892 | 1116/1278 | 372/425 | chr16 | TogoVar | |||
NPIPB6_chr16_28337517_28368508 | 28342730 | CGATTGTT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(87): Show |
a0003a0004a0005others(5): Show | a0003c0003a0004c0004a0005c0005others(6): Show | a0003c0003t0001a0003c0003t0002a0004c0004t0001others(8): Show | a0003c0003t0001g0195 a0003c0003t0002g0196 a0003c0003t0002g0223 others(85): Show |
90 | 360 | 0.2500 | -42 | c.111 others(51): Show |
p.Pro others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1678/1892 | 1113/1278 | 371/425 | chr16 | TogoVar | |||
NPIPB6_chr16_28337517_28368508 | 28342756 | GCCTCTTG others(35): Show |
G | conservative_inframe_deletion | MODERATE | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 360 | 0.0028 | -42 | c.108 others(51): Show |
p.Trp others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1652/1892 | 1087/1278 | 363/425 | chr16 | TogoVar | |||
NPIPB6_chr16_28337517_28368508 | 28342777 | GTTCCACC others(35): Show |
G | conservative_inframe_deletion | MODERATE | HG02717.hp1 HG03579.hp1 |
a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0159 a0018c0017t0001g0170 |
2 | 360 | 0.0056 | -42 | c.106 others(51): Show |
p.Lys others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1631/1892 | 1066/1278 | 356/425 | chr16 | TogoVar | |||
NRARP_chr9_137294631_137307271 | 137297744 | CGCCCCCT others(35): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 2 | 356 | 0.0056 | -42 | c.*37 others(53): Show |
NRARP | ENSG00000198435.4 | transcript | ENST00000356628.4 | protein_coding | 1886 | chr9 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50399789 | TAAAAAAA others(35): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0055a0001c0001t0056a0001c0002t0001others(3): Show | a0001c0001t0055g0031 a0001c0001t0056g0048 a0001c0002t0001g0105 others(3): Show |
6 | 20 | 0.3000 | -42 | c.336 others(63): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79376210 | GTATGTAT others(35): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0018 a0001c0001t0008g0008 |
2 | 22 | 0.0909 | -42 | c.326 others(63): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79740710 | TTTTATAT others(35): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0022 | 1 | 8 | 0.1250 | -42 | c.401 others(63): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79845833 | GGAGACGG others(35): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0015 | 1 | 24 | 0.0417 | -42 | c.409 others(63): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NT5DC4_chr2_112716020_112744095 | 112719904 | TTTTCTTT others(35): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0001a0008c0007t0001 | a0002c0002t0001g0103 a0008c0007t0001g0035 |
2 | 216 | 0.0093 | -42 | c.-11 others(53): Show |
NT5DC4 | ENSG00000144130.12 | transcript | ENST00000688554.1 | protein_coding | 1115 | chr2 | TogoVar | |||||||
NTN4_chr12_95652807_95795764 | 95750086 | GTATCTCT others(35): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 322 | 0.0031 | -42 | c.586 others(61): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
NTN5_chr19_48656407_48678017 | 48669201 | TCACCATC others(35): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042 a0001c0002t0001g0041 a0001c0002t0001g0111 others(1): Show |
6 | 255 | 0.0235 | -42 | c.631 others(59): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
NUDT2_chr9_34324569_34348699 | 34346359 | AATATATA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show |
9 | 362 | 0.0249 | -42 | c.*29 others(53): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2661 | chr9 | TogoVar | |||||||
NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(35): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0293 | 1 | 125 | 0.0080 | -42 | c.29- others(57): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135567124 | GTGTGTAT others(35): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 270 | 0.0037 | -42 | c.29- others(57): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NVL_chr1_224222345_224335172 | 224276911 | TTGACACA others(35): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0030 others(69): Show |
72 | 83 | 0.8675 | -42 | c.196 others(61): Show |
NVL | ENSG00000143748.18 | transcript | ENST00000281701.11 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
NXF2B_chrX_102355395_102445008 | 102412477 | AAAGAAGA others(35): Show |
A | intron_variant | MODIFIER | NA18962.hp1 NA18977.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0023 |
3 | 34 | 0.0882 | -42 | c.-54 others(61): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | |||||||
NXF2_chrX_102242167_102331722 | 102274538 | CTTCCTCT others(35): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG03516.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0037 |
3 | 34 | 0.0882 | -42 | c.-54 others(61): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | |||||||
NXF2_chrX_102242167_102331722 | 102274550 | CCTTCTTC others(35): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 28 | 0.0357 | -42 | c.-54 others(61): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463783 | AAGAAGAA others(35): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 346 | 0.0029 | -42 | c.-29 others(53): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2858 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 458757 | CGGGGAGG others(35): Show |
C | downstream_gene_variant | MODIFIER | NA18612.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0020 | 1 | 322 | 0.0031 | -42 | c.*50 others(53): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4603 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 461102 | GCCCGGCC others(35): Show |
G | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 322 | 0.0031 | -42 | c.*27 others(53): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 2258 | chr19 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174163735 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0001g0068 a0001c0001t0010g0069 a0001c0001t0015g0004 others(3): Show |
6 | 259 | 0.0232 | -42 | c.374 others(61): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar |