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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERPINI1_chr3_167730721_167830569 | 167786507 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00738.hp2 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0037 others(26): Show |
29 | 232 | 0.1250 | 5 | c.-18 others(22): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167793594 | A | ATTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0195 others(5): Show |
8 | 232 | 0.0345 | 5 | c.676 others(20): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167793596 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
20 | 232 | 0.0862 | 5 | c.676 others(20): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167793596 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01109.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(20): Show |
23 | 232 | 0.0991 | 5 | c.676 others(20): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI1_chr3_167730721_167830569 | 167800793 | C | CTGTTT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0145 a0001c0001t0001g0154 others(6): Show |
9 | 232 | 0.0388 | 5 | c.881 others(22): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI2_chr3_167436933_167479042 | 167470550 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01358.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0012 | a0001c0001t0001a0001c0001t0004a0002c0002t0003others(1): Show | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(6): Show |
9 | 352 | 0.0256 | 5 | c.247 others(22): Show |
SERPINI2 | ENSG00000114204.16 | transcript | ENST00000264677.9 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SERTAD1_chr19_40416589_40430992 | 40418190 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0003t0003a0001c0003t0005others(13): Show | a0001c0002t0001g0006 a0001c0003t0003g0008 a0001c0003t0005g0007 others(17): Show |
153 | 368 | 0.4158 | 5 | c.*46 others(16): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 3398 | chr19 | TogoVar | |||||||
SERTAD2_chr2_64626621_64658913 | 64652846 | G | GTAAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(160): Show |
386 | 424 | 0.9104 | 5 | c.-5+ others(18): Show |
SERTAD2 | ENSG00000179833.4 | transcript | ENST00000313349.3 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
SERTAD4_chr1_210227796_210251255 | 210235626 | G | GATCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0022 others(92): Show |
295 | 420 | 0.7024 | 5 | c.-17 others(22): Show |
SERTAD4 | ENSG00000082497.12 | transcript | ENST00000367012.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERTM2_chrX_111506645_111527399 | 111513060 | T | TATTAA | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01884.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(20): Show |
61 | 259 | 0.2355 | 5 | c.-78 others(22): Show |
SERTM2 | ENSG00000260802.2 | transcript | ENST00000569275.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SERTM2_chrX_111506645_111527399 | 111522687 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 259 | 0.0039 | 5 | c.*35 others(16): Show |
SERTM2 | ENSG00000260802.2 | transcript | ENST00000569275.2 | protein_coding | 289 | chrX | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 108987806 | C | CTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0058 others(10): Show |
13 | 184 | 0.0707 | 5 | c.157 others(22): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109027476 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01433.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0049 a0002c0002t0002g0014 a0002c0002t0002g0026 others(3): Show |
6 | 184 | 0.0326 | 5 | c.280 others(24): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109064589 | A | AGAGGG | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00738.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0053 others(49): Show |
52 | 184 | 0.2826 | 5 | c.279 others(24): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SESN2_chr1_28254518_28287491 | 28262621 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 others(36): Show |
55 | 338 | 0.1627 | 5 | c.90+ others(20): Show |
SESN2 | ENSG00000130766.5 | transcript | ENST00000253063.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SESTD1_chr2_179096678_179269832 | 179187117 | G | GTTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0041 | a0001c0001t0005g0035 a0001c0001t0005g0038 a0001c0001t0005g0039 others(13): Show |
16 | 274 | 0.0584 | 5 | c.56- others(20): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179264834 | A | AGGCGG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0030 a0001c0001t0015g0135 a0001c0001t0015g0136 others(2): Show |
5 | 274 | 0.0183 | 5 | c.-36 others(14): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 3 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44986895 | G | GATAGT | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG02080.hp1 others(5): Show |
a0001a0005a0008others(2): Show | a0001c0001a0005c0006a0008c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0010 a0001c0001t0003g0037 a0001c0001t0006g0092 others(5): Show |
8 | 140 | 0.0571 | 5 | c.400 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44986896 | T | TTAGTA | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0024a0001c0005t0001others(2): Show | a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0024g0108 others(3): Show |
6 | 140 | 0.0429 | 5 | c.400 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 45048978 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01070.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0091 a0001c0001t0002g0125 a0001c0001t0012g0033 others(10): Show |
13 | 140 | 0.0929 | 5 | c.417 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47040569 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(70): Show |
a0001a0002a0006others(4): Show | a0001c0005a0001c0006a0002c0001others(7): Show | a0001c0005t0001a0001c0006t0001a0002c0001t0001others(9): Show | a0001c0005t0001g0273 a0001c0006t0001g0272 a0001c0006t0001g0293 others(70): Show |
73 | 308 | 0.2370 | 5 | c.723 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 17/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47049913 | T | TTTATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(196): Show |
a0001a0002a0003others(14): Show | a0001c0005a0001c0006a0002c0001others(20): Show | a0001c0005t0001a0001c0005t0004a0001c0005t0005others(25): Show | a0001c0005t0001g0115 a0001c0005t0001g0123 a0001c0005t0001g0149 others(196): Show |
199 | 308 | 0.6461 | 5 | c.696 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47050723 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01891.hp2 others(22): Show |
a0002a0004a0005others(2): Show | a0002c0001a0004c0004a0004c0010others(3): Show | a0002c0001t0001a0004c0004t0001a0004c0004t0004others(4): Show | a0002c0001t0001g0165 a0004c0004t0001g0116 a0004c0004t0001g0118 others(22): Show |
25 | 308 | 0.0812 | 5 | c.696 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47056012 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0003g0081 others(4): Show |
7 | 308 | 0.0227 | 5 | c.696 others(22): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47056094 | T | TTTTTA | intron_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG01928.hp1 others(7): Show |
a0002a0009 | a0002c0001a0009c0011 | a0002c0001t0001a0009c0011t0001 | a0002c0001t0001g0163 a0002c0001t0001g0171 a0002c0001t0001g0184 others(7): Show |
10 | 308 | 0.0325 | 5 | c.696 others(22): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47106493 | T | TAAAAA | intron_variant | MODIFIER | HG01934.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001a0004a0017 | a0001c0005a0004c0004a0017c0027 | a0001c0005t0001a0001c0005t0005a0004c0004t0001others(2): Show | a0001c0005t0001g0149 a0001c0005t0005g0072 a0001c0005t0005g0074 others(9): Show |
12 | 308 | 0.0390 | 5 | c.471 others(22): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 5/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47150028 | C | CTTTTT | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG01515.hp1 others(26): Show |
a0001a0003a0012 | a0001c0005a0003c0003a0003c0014others(1): Show | a0001c0005t0001a0001c0005t0004a0001c0005t0005others(3): Show | a0001c0005t0001g0149 a0001c0005t0004g0299 a0001c0005t0005g0072 others(26): Show |
29 | 308 | 0.0942 | 5 | c.71+ others(22): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SETD4_chr21_36029541_36065526 | 36062810 | T | TAAAAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(137): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(69): Show |
140 | 398 | 0.3518 | 5 | c.-25 others(16): Show |
SETD4 | ENSG00000185917.14 | transcript | ENST00000332131.9 | protein_coding | 2285 | chr21 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9425055 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01074.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 others(29): Show |
32 | 240 | 0.1333 | 5 | c.-11 others(22): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9426212 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG02004.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0054 others(11): Show |
14 | 240 | 0.0583 | 5 | c.-11 others(24): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9452659 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01123.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0002g0190 others(13): Show |
16 | 240 | 0.0667 | 5 | c.234 others(24): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9472191 | A | ACACTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(35): Show |
a0001a0006a0007 | a0001c0001a0006c0011a0007c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(35): Show |
38 | 240 | 0.1583 | 5 | c.319 others(24): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58516124 | T | TGGGGC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01081.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0006g0006 others(12): Show |
45 | 426 | 0.1056 | 5 | c.334 others(18): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58519819 | C | CAATCA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(129): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(19): Show | a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0058 others(30): Show |
132 | 426 | 0.3099 | 5 | c.*79 others(14): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 8/8 | 797 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SETD7_chr4_139501038_139561219 | 139525613 | G | GAATTA | intron_variant | MODIFIER | HG02717.hp1 HG03139.hp2 HG03516.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0012a0001c0004t0033 | a0001c0004t0001g0252 a0001c0004t0012g0251 a0001c0004t0033g0071 |
3 | 316 | 0.0095 | 5 | c.563 others(22): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 4/7 | chr4 | TogoVar | |||||||
SETD7_chr4_139501038_139561219 | 139543798 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01069.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0026 others(35): Show |
40 | 316 | 0.1266 | 5 | c.170 others(22): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SETD7_chr4_139501038_139561219 | 139544290 | C | CTAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01169.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0116 others(29): Show |
35 | 316 | 0.1108 | 5 | c.170 others(22): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150946001 | C | CTGTTT | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0183 |
4 | 352 | 0.0114 | 5 | c.114 others(22): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49439921 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02897.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0037a0001c0002t0002others(4): Show | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0125 others(8): Show |
11 | 406 | 0.0271 | 5 | c.-52 others(16): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 4352 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49442797 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0022 a0004c0005t0006g0063 a0004c0005t0006g0068 others(6): Show |
9 | 406 | 0.0222 | 5 | c.-24 others(16): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 1476 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49443801 | T | TGAGAC | upstream_gene_variant | MODIFIER | NA18952.hp2 NA19004.hp2 NA19011.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0002 a0001c0001t0015g0002 a0001c0001t0015g0036 others(1): Show |
5 | 406 | 0.0123 | 5 | c.-13 others(16): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 472 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49471935 | T | TATATA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(61): Show |
a0001a0008 | a0001c0001a0001c0012a0008c0011 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(56): Show |
64 | 406 | 0.1576 | 5 | c.305 others(22): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49490279 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 others(44): Show |
47 | 406 | 0.1158 | 5 | c.191 others(22): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49496830 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01081.hp2 others(54): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(4): Show | a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0002g0225 others(47): Show |
57 | 406 | 0.1404 | 5 | c.*49 others(16): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 1828 | chr13 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132290574 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02572.hp2 others(3): Show |
a0004a0006a0008others(1): Show | a0004c0005a0006c0007a0008c0008others(1): Show | a0004c0005t0004a0006c0007t0005a0008c0008t0001others(1): Show | a0004c0005t0004g0080 a0004c0005t0004g0181 a0006c0007t0005g0160 others(3): Show |
6 | 362 | 0.0166 | 5 | c.610 others(24): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 15/25 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29869747 | A | AATTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0211 a0001c0001t0002g0048 a0001c0001t0002g0049 others(48): Show |
54 | 308 | 0.1753 | 5 | c.*19 others(16): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 1411 | chr16 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0079 others(7): Show |
10 | 308 | 0.0325 | 5 | c.210 others(22): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29904126 | G | GAATAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0153 a0001c0001t0001g0158 others(87): Show |
102 | 308 | 0.3312 | 5 | c.-51 others(16): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 4577 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26219254 | G | GTGTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0116 others(37): Show |
40 | 240 | 0.1667 | 5 | c.94+ others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26236585 | T | TGGTTA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(50): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0076 a0001c0001t0001g0155 a0001c0001t0001g0156 others(50): Show |
53 | 240 | 0.2208 | 5 | c.95- others(22): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |