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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNAPC3_chr9_15417876_15466626 | 15452322 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00597.hp2 others(125): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0023 others(116): Show |
128 | 308 | 0.4156 | 1 | c.816 others(8): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15454229 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(34): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0002g0222 others(30): Show |
37 | 308 | 0.1201 | 1 | c.980 others(9): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15457891 | T | TA | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 others(1): Show |
4 | 308 | 0.0130 | 1 | c.981 others(7): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15458082 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(179): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(167): Show |
182 | 308 | 0.5909 | 1 | c.108 others(8): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNAPC3_chr9_15417876_15466626 | 15462353 | G | GT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02015.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0253 others(9): Show |
14 | 308 | 0.0455 | 1 | c.*24 others(12): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 728 | chr9 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15463215 | C | CT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG02155.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0241 others(10): Show |
14 | 308 | 0.0455 | 1 | c.*33 others(12): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 1590 | chr9 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15463942 | A | AC | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03486.hp2 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0151 a0001c0001t0002g0256 a0001c0001t0014g0232 others(1): Show |
4 | 308 | 0.0130 | 1 | c.*40 others(12): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 2317 | chr9 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15465458 | C | CT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0016a0003c0004t0001 | a0001c0001t0001g0271 a0001c0002t0016g0277 a0003c0004t0001g0006 others(3): Show |
8 | 308 | 0.0260 | 1 | c.*55 others(12): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 3833 | chr9 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15466284 | C | CA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0021 | a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0101 others(3): Show |
6 | 308 | 0.0195 | 1 | c.*64 others(12): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 4659 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136376747 | A | AG | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG02273.hp1 others(2): Show |
a0007a0019 | a0007c0011a0019c0027 | a0007c0011t0003a0019c0027t0003 | a0007c0011t0003g0042 a0007c0011t0003g0171 a0007c0011t0003g0227 others(1): Show |
5 | 380 | 0.0132 | 1 | c.428 others(9): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136377147 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp2 others(47): Show |
a0003a0025a0026others(3): Show | a0003c0003a0003c0035a0003c0060others(5): Show | a0003c0003t0002a0003c0003t0005a0003c0035t0002others(6): Show | a0003c0003t0002g0010 a0003c0003t0002g0019 a0003c0003t0002g0020 others(37): Show |
50 | 380 | 0.1316 | 1 | c.428 others(9): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136378671 | T | TG | frameshift_variant | HIGH | NA19068.hp2 | a0036 | a0036c0056 | a0036c0056t0001 | a0036c0056t0001g0112 | 1 | 380 | 0.0026 | 1 | c.315 others(5): Show |
p.Leu others(6): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 3201/4693 | 3155/4410 | 1052/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136378682 | T | TG | frameshift_variant | HIGH | NA18963.hp2 | a0026 | a0026c0036 | a0026c0036t0002 | a0026c0036t0002g0214 | 1 | 380 | 0.0026 | 1 | c.314 others(5): Show |
p.Ser others(6): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 3190/4693 | 3144/4410 | 1048/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136378691 | C | CG | frameshift_variant | HIGH | NA19068.hp2 | a0036 | a0036c0056 | a0036c0056t0001 | a0036c0056t0001g0112 | 1 | 380 | 0.0026 | 1 | c.313 others(5): Show |
p.Ala others(6): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 3181/4693 | 3135/4410 | 1045/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136378990 | G | GA | frameshift_variant | HIGH | NA19068.hp2 | a0036 | a0036c0056 | a0036c0056t0001 | a0036c0056t0001g0112 | 1 | 380 | 0.0026 | 1 | c.283 others(10): Show |
p.Thr others(5): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 2882/4693 | 2836/4410 | 946/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136379016 | T | TG | frameshift_variant | HIGH | NA18987.hp2 | a0028 | a0028c0055 | a0028c0055t0001 | a0028c0055t0001g0166 | 1 | 380 | 0.0026 | 1 | c.281 others(5): Show |
p.His others(5): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 2856/4693 | 2810/4410 | 937/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136379197 | T | TG | frameshift_variant | HIGH | NA19068.hp2 | a0036 | a0036c0056 | a0036c0056t0001 | a0036c0056t0001g0112 | 1 | 380 | 0.0026 | 1 | c.262 others(5): Show |
p.Gln others(5): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 22/24 | 2675/4693 | 2629/4410 | 877/1469 | chr9 | TogoVar | |||
SNAPC4_chr9_136370571_136405170 | 136386146 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(152): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0002c0016others(26): Show | a0002c0002t0002a0002c0015t0002a0002c0016t0002others(27): Show | a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0022 others(117): Show |
155 | 380 | 0.4079 | 1 | c.132 others(10): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 13/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136386434 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 HG01123.hp1 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(5): Show | a0001c0001t0001g0083 a0001c0001t0007g0274 a0001c0004t0001g0111 others(9): Show |
13 | 380 | 0.0342 | 1 | c.132 others(10): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 13/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136388267 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(106): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(23): Show | a0001c0001t0001g0075 a0001c0004t0001g0093 a0001c0004t0001g0111 others(82): Show |
109 | 380 | 0.2868 | 1 | c.112 others(9): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 11/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136389544 | C | CG | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01106.hp2 others(4): Show |
a0001a0007a0009 | a0001c0010a0007c0011a0009c0018 | a0001c0010t0001a0007c0011t0003a0009c0018t0001 | a0001c0010t0001g0013 a0001c0010t0001g0117 a0007c0011t0003g0227 others(2): Show |
7 | 380 | 0.0184 | 1 | c.976 others(8): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136390554 | G | GA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(163): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0004a0001c0006others(31): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(100): Show |
166 | 380 | 0.4368 | 1 | c.975 others(9): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136390840 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02683.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0141 a0001c0004t0001g0063 a0001c0004t0001g0093 others(4): Show |
7 | 380 | 0.0184 | 1 | c.975 others(9): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136394230 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(90): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0025a0001c0026others(15): Show | a0001c0001t0001a0001c0025t0001a0001c0026t0001others(16): Show | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0025t0001g0172 others(71): Show |
93 | 380 | 0.2447 | 1 | c.632 others(7): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 7/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136397462 | T | TG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(86): Show |
a0001a0003a0004others(9): Show | a0001c0026a0003c0003a0003c0031others(13): Show | a0001c0026t0001a0003c0003t0002a0003c0003t0005others(14): Show | a0001c0026t0001g0201 a0003c0003t0002g0010 a0003c0003t0002g0019 others(67): Show |
89 | 380 | 0.2342 | 1 | c.131 others(8): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403369 | C | CG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp2 others(50): Show |
a0001a0003a0005others(9): Show | a0001c0012a0003c0003a0003c0035others(10): Show | a0001c0012t0001a0003c0003t0002a0003c0003t0005others(11): Show | a0001c0012t0001g0104 a0003c0003t0002g0010 a0003c0003t0002g0020 others(41): Show |
53 | 380 | 0.1395 | 1 | c.-32 others(6): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3200 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403416 | C | CG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp2 others(44): Show |
a0003a0005a0008others(7): Show | a0003c0003a0003c0035a0005c0008others(8): Show | a0003c0003t0002a0003c0003t0005a0003c0035t0002others(9): Show | a0003c0003t0002g0010 a0003c0003t0002g0020 a0003c0003t0002g0046 others(36): Show |
47 | 380 | 0.1237 | 1 | c.-32 others(6): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3247 | chr9 | TogoVar | |||||||
SNAPC5_chr15_66488468_66502762 | 66491867 | G | GA | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0033 a0001c0001t0002g0018 a0001c0001t0005g0013 |
5 | 428 | 0.0117 | 1 | c.*25 others(6): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 1600 | chr15 | TogoVar | |||||||
SNAPC5_chr15_66488468_66502762 | 66496465 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0042 a0001c0001t0002g0018 a0001c0001t0002g0043 others(14): Show |
103 | 428 | 0.2407 | 1 | c.91- others(8): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
SNAPC5_chr15_66488468_66502762 | 66496524 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(114): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0025 others(13): Show |
117 | 428 | 0.2734 | 1 | c.91- others(8): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
SNAPC5_chr15_66488468_66502762 | 66501960 | G | GA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01516.hp1 HG01884.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(1): Show |
39 | 428 | 0.0911 | 1 | c.-42 others(6): Show |
SNAPC5 | ENSG00000174446.13 | transcript | ENST00000316634.6 | protein_coding | 4199 | chr15 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153654153 | C | CT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0037 |
3 | 400 | 0.0075 | 1 | c.-45 others(12): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 4549 | chr1 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153655291 | C | CA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01081.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(22): Show |
73 | 400 | 0.1825 | 1 | c.-34 others(12): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 3411 | chr1 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153657313 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(25): Show |
200 | 400 | 0.5000 | 1 | c.-14 others(12): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 1389 | chr1 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153658249 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(21): Show |
164 | 400 | 0.4100 | 1 | c.-49 others(10): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 453 | chr1 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153660331 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(243): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(30): Show |
246 | 400 | 0.6150 | 1 | c.309 others(8): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAPIN_chr1_153653703_153666852 | 153660648 | C | CG | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01099.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0033 others(3): Show |
38 | 400 | 0.0950 | 1 | c.310 others(8): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAPIN_chr1_153653703_153666852 | 153660651 | G | GA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 others(11): Show |
74 | 400 | 0.1850 | 1 | c.310 others(8): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAPIN_chr1_153653703_153666852 | 153663807 | C | CA | downstream_gene_variant | MODIFIER | NA18981.hp1 NA19000.hp1 NA19000.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0002 others(2): Show |
6 | 400 | 0.0150 | 1 | c.*25 others(12): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 1956 | chr1 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122308577 | C | CT | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(12): Show |
15 | 222 | 0.0676 | 1 | c.-37 others(12): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 3659 | chr5 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122310335 | C | CA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0071 others(12): Show |
15 | 222 | 0.0676 | 1 | c.-19 others(12): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1901 | chr5 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122317088 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(66): Show |
a0001a0002a0008 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
69 | 222 | 0.3108 | 1 | c.-47 others(9): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122319230 | T | TA | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01433.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(9): Show |
12 | 222 | 0.0541 | 1 | c.-47 others(9): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122326606 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 others(11): Show |
14 | 222 | 0.0631 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122329262 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG01515.hp1 HG02451.hp1 others(15): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0029 others(15): Show |
18 | 222 | 0.0811 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122330117 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0125 a0001c0001t0001g0152 others(5): Show |
8 | 222 | 0.0360 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122340454 | G | GA | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0009t0003 | a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 others(3): Show |
6 | 222 | 0.0270 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122347996 | A | AG | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG06807.hp2 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0005 | a0001c0001t0002a0002c0002t0001a0008c0005t0001 | a0001c0001t0002g0068 a0002c0002t0001g0074 a0008c0005t0001g0004 |
3 | 222 | 0.0135 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01169.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0005c0012t0001 | a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0136 others(7): Show |
10 | 222 | 0.0451 | 1 | c.-47 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122353439 | C | CA | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01496.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0028 others(16): Show |
19 | 222 | 0.0856 | 1 | c.-46 others(10): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |