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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1435241 | GGGGTGCC others(137): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0039 | 1 | 360 | 0.0028 | -144 | c.92- others(13): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435310 | GGGGGTCT others(137): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0341 | 1 | 360 | 0.0028 | -144 | c.92- others(13): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435339 | GGGGGTCT others(137): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0215 | 1 | 360 | 0.0028 | -144 | c.92- others(13): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1107947 | AGGAAGCA others(137): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0262 a0001c0001t0002g0283 a0001c0001t0002g0284 others(1): Show |
4 | 326 | 0.0123 | -144 | c.129 others(19): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218258 | ACATCCTC others(137): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0066 a0001c0001t0007g0150 |
2 | 278 | 0.0072 | -144 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004358 | GGTTAGGG others(137): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0001g0135 a0001c0002t0002g0061 a0001c0002t0002g0062 others(21): Show |
35 | 394 | 0.0888 | -144 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(137): Show |
C | intron_variant | MODIFIER | HG00597.hp2 NA19055.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0218 |
3 | 236 | 0.0127 | -144 | c.-77 others(19): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88930114 | ACCCAGAG others(137): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0025a0001c0002t0035a0001c0003t0001others(2): Show | a0001c0001t0025g0099 a0001c0002t0035g0284 a0001c0003t0001g0204 others(3): Show |
6 | 284 | 0.0211 | -144 | c.152 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44800858 | CCAGCCCC others(137): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03195.hp2 |
a0000a0001 | a0000c0002a0001c0009 | a0000c0002t0001a0001c0009t0002 | a0000c0002t0001g0039 a0000c0002t0001g0041 a0001c0009t0002g0064 |
3 | 344 | 0.0087 | -144 | c.*31 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 207 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44800965 | TCCAGCCC others(137): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03098.hp1 NA19043.hp2 |
a0001a0008 | a0001c0006a0001c0009a0008c0019 | a0001c0006t0001a0001c0009t0001a0008c0019t0001 | a0001c0006t0001g0047 a0001c0009t0001g0073 a0008c0019t0001g0060 |
3 | 344 | 0.0087 | -144 | c.*42 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 314 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801065 | ATCCATAC others(137): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 344 | 0.0029 | -144 | c.*52 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 414 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801290 | GCAGCCCC others(137): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0050 | 1 | 344 | 0.0029 | -144 | c.*74 others(9): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 639 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44801505 | TCCAGCCC others(137): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0060 | 1 | 344 | 0.0029 | -144 | c.*96 others(10): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 854 | chr19 | TogoVar | |||||||
CDC42SE1_chr1_151045985_151064622 | 151058824 | CTGGCCCT others(137): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 342 | 0.0029 | -144 | c.-26 others(17): Show |
CDC42SE1 | ENSG00000197622.13 | transcript | ENST00000357235.6 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61689173 | GGTGATGT others(137): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02145.hp1 HG02148.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0028others(15): Show | a0001c0001t0001g0032 a0001c0001t0018g0031 a0001c0001t0028g0016 others(16): Show |
19 | 106 | 0.1793 | -144 | c.170 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863512 | TCCTCCTC others(137): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0190 others(7): Show |
10 | 216 | 0.0463 | -144 | c.495 others(19): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLDN8_chr21_30209006_30221097 | 30210272 | CGTATGTG others(137): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01099.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0000 a0001c0001t0012g0000 |
20 | 466 | 0.0429 | -144 | c.*48 others(11): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3733 | chr21 | TogoVar | |||||||
COPS7B_chr2_231781445_231814253 | 231813596 | ATGGTGTT others(137): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18961.hp1 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 4 | 348 | 0.0115 | -144 | c.*59 others(11): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 4344 | chr2 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1211489 | ATGGATAA others(137): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03453.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0016 a0002c0004t0001g0010 a0002c0004t0001g0011 |
3 | 167 | 0.0180 | -144 | c.79+ others(14): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240984703 | CCACACAC others(137): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0003a0023 | a0003c0086a0023c0054 | a0003c0086t0001a0023c0054t0001 | a0003c0086t0001g0066 a0023c0054t0001g0189 |
2 | 350 | 0.0057 | -144 | c.455 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48730192 | AGGTGTGA others(137): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0126 | 1 | 144 | 0.0069 | -144 | c.584 others(19): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103014746 | CAATATAC others(137): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0067a0002c0002t0015 | a0001c0001t0067g0247 a0002c0002t0015g0277 a0002c0002t0015g0296 |
3 | 448 | 0.0067 | -144 | c.*81 others(19): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCAKD_chr17_45018344_45056632 | 45051859 | GCGGGGCC others(137): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0231 | 1 | 408 | 0.0025 | -144 | c.-75 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 228 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694626 | CTTTCTTG others(137): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA20300.hp1 |
a0001a0042 | a0001c0129a0042c0078 | a0001c0129t0001a0042c0078t0001 | a0001c0129t0001g0112 a0042c0078t0001g0050 |
2 | 178 | 0.0112 | -144 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694630 | CTTGCTTT others(137): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0043 | a0043c0079 | a0043c0079t0001 | a0043c0079t0001g0133 | 1 | 178 | 0.0056 | -144 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694634 | CTTTCTTG others(137): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0026 | a0026c0095 | a0026c0095t0001 | a0026c0095t0001g0044 | 1 | 178 | 0.0056 | -144 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 168571 | GTTCTTGA others(137): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(96): Show |
118 | 339 | 0.3481 | -144 | c.453 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 168591 | GTCTCACG others(137): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0109 | 1 | 339 | 0.0030 | -144 | c.453 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565310 | TGTCTGTG others(137): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0190 |
4 | 340 | 0.0118 | -144 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565812 | TCTGTCTG others(137): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 NA19065.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0157 a0001c0001t0001g0182 a0003c0003t0001g0025 |
3 | 340 | 0.0088 | -144 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565870 | TGTCTGTG others(137): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0091 others(3): Show |
6 | 340 | 0.0177 | -144 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565928 | TCTGTCTG others(137): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG03225.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0220 |
3 | 340 | 0.0088 | -144 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565950 | GGGGTGAC others(137): Show |
G | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 340 | 0.0029 | -144 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566016 | TGTCTGTG others(137): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 340 | 0.0029 | -144 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566162 | TGTCTGTG others(137): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 2 | 340 | 0.0059 | -144 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567220 | GGGGTGAC others(137): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 340 | 0.0029 | -144 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567492 | TGTCTGTG others(137): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 340 | 0.0029 | -144 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137568117 | GTCTGTGA others(137): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 340 | 0.0029 | -144 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137568202 | ACTGTCTG others(137): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 a0002c0002t0001g0235 |
2 | 340 | 0.0059 | -144 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DSPP_chr4_87603529_87621873 | 87615908 | TGAAAGCA others(137): Show |
T | disruptive_inframe_deletion | MODERATE | HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0022 a0014c0012t0001g0080 |
6 | 450 | 0.0133 | -144 | c.324 others(9): Show |
p.Glu others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3369/4331 | 3249/3906 | 1083/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
EIF2B3_chr1_44845522_44991595 | 44873956 | GTTTTAGA others(137): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 322 | 0.0031 | -144 | c.120 others(17): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3191162 | AAGGGTCC others(137): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 250 | 0.0040 | -144 | c.989 others(17): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927652 | TACACACA others(137): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0011 |
4 | 314 | 0.0127 | -144 | c.196 others(17): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927945 | GTGGTGGT others(137): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0275 | 1 | 288 | 0.0035 | -144 | c.190 others(19): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 666888 | GGGAGATG others(137): Show |
G | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 418 | 0.0024 | -144 | c.*72 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3429 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43470243 | TATATACA others(137): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0005a0001c0009t0001a0002c0004t0024 | a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0009t0001g0133 others(1): Show |
4 | 188 | 0.0213 | -144 | c.-75 others(19): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440893 | CCCCCAGA others(137): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0131 | 1 | 392 | 0.0026 | -144 | c.-21 others(15): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ERMARD_chr6_169746622_169786600 | 169765858 | GCTGTCAA others(137): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(146): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0003a0003c0004others(8): Show | a0002c0002t0001a0002c0003t0001a0003c0004t0001others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 others(64): Show |
149 | 379 | 0.3931 | -144 | c.961 others(15): Show |
ERMARD | ENSG00000130023.16 | transcript | ENST00000366773.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11874509 | CGTGTGTA others(137): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00733.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0068 a0001c0001t0001g0133 a0001c0001t0001g0160 others(61): Show |
64 | 262 | 0.2443 | -144 | c.100 others(19): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109384 | CCCCCATG others(137): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01175.hp1 others(1): Show |
a0001a0004 | a0001c0005a0004c0002 | a0001c0005t0001a0004c0002t0001a0004c0002t0003 | a0001c0005t0001g0185 a0004c0002t0001g0058 a0004c0002t0003g0051 others(1): Show |
4 | 404 | 0.0099 | -144 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |