| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(616): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 268 | 0.0037 | 623 | c.*73 others(634): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48736401 | C | CCCAGAGT others(616): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0141 | 1 | 258 | 0.0039 | 623 | c.391 others(642): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89908674 | T | TCCTCCCA others(616): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02293.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0087a0001c0001t0001g0096others(2): Show | 5 | 300 | 0.0167 | 623 | c.179 others(642): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TUBGCP3_chr13_112480011_112593153 | 112539828 | G | GGATGTCA others(616): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00642.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0013a0002c0006t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0022others(39): Show | 44 | 312 | 0.1410 | 623 | c.133 others(642): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169301 | T | TTCCTCCC others(616): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0011 | 1 | 115 | 0.0087 | 623 | c.*73 others(632): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 642 | chrX | TogoVar | ||||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(616): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18960.hp1 NA18998.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0131others(1): Show | 6 | 218 | 0.0275 | 623 | c.55+ others(638): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(616): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02630.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 246 | 0.0122 | 623 | c.-10 others(640): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(616): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 246 | 0.0041 | 623 | c.-10 others(640): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(616): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 246 | 0.0041 | 623 | c.-10 others(640): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370997 | A | ATATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 350 | 0.0029 | 623 | c.-34 others(634): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | ||||||
| ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(616): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0045 | a0045c0074 | a0045c0074t0027 | a0045c0074t0027g0023 | 1 | 354 | 0.0028 | 623 | c.-19 others(644): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 383 | 0.0026 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 383 | 0.0026 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 383 | 0.0026 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0159 | 2 | 383 | 0.0052 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 NA18939.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0167 | 4 | 383 | 0.0104 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 383 | 0.0026 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(616): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 383 | 0.0026 | 623 | c.-42 others(634): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(617): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 249 | 0.0040 | 624 | c.49- others(639): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(617): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0131a0001c0001t0003g0129a0001c0001t0003g0130 | 3 | 337 | 0.0089 | 624 | c.61+ others(639): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(617): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0078 | a0001c0001t0004g0257a0001c0001t0078g0289 | 2 | 337 | 0.0059 | 624 | c.61+ others(639): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173303 | T | TCCACCCC others(617): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0089a0001c0001t0004g0293 | 2 | 337 | 0.0059 | 624 | c.61+ others(639): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(617): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0015 | 1 | 228 | 0.0044 | 624 | c.259 others(645): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(617): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0103 | 1 | 169 | 0.0059 | 624 | c.48- others(641): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(617): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0301 | 1 | 304 | 0.0033 | 624 | c.331 others(643): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79145733 | G | GGCTGCAT others(617): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0009 | a0009c0034 | a0009c0034t0002 | a0009c0034t0002g0186 | 1 | 298 | 0.0034 | 624 | c.726 others(641): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1190878 | C | CTTACTCA others(617): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
a0002a0010a0060 | a0002c0012a0010c0024a0010c0062others(2): Show | a0002c0012t0002a0010c0024t0001a0010c0024t0002others(3): Show | a0002c0012t0002g0332a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | 338 | 0.0178 | 624 | c.300 others(641): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(617): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0087 | 1 | 214 | 0.0047 | 624 | c.565 others(641): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(617): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0174 | 1 | 330 | 0.0030 | 624 | c.907 others(639): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(617): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0160 | 1 | 330 | 0.0030 | 624 | c.907 others(639): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(617): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0050 | 1 | 58 | 0.0172 | 624 | c.234 others(645): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(617): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 252 | 0.0040 | 624 | c.-29 others(635): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
| CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(617): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 252 | 0.0040 | 624 | c.-29 others(635): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
| CD3G_chr11_118339344_118360161 | 118355934 | T | TATGTGTG others(617): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 442 | 0.0023 | 624 | c.*28 others(635): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 774 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG03471.hp2 |
a0002a0005 | a0002c0012a0005c0040 | a0002c0012t0077a0005c0040t0002 | a0002c0012t0077g0272a0005c0040t0002g0032 | 2 | 334 | 0.0060 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0005 | a0005c0010 | a0005c0010t0006 | a0005c0010t0006g0256 | 1 | 334 | 0.0030 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0105 | 1 | 334 | 0.0030 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0156 | 1 | 334 | 0.0030 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0004 | a0001c0004t0111 | a0001c0004t0111g0330 | 1 | 334 | 0.0030 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(617): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0004 | a0004c0023 | a0004c0023t0002 | a0004c0023t0002g0002 | 1 | 334 | 0.0030 | 624 | c.-25 others(635): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CFAP47_chrX_35914734_36390317 | 35966189 | A | ACTAATAT others(617): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0050 | a0050c0062 | a0050c0062t0001 | a0050c0062t0001g0216 | 1 | 216 | 0.0046 | 624 | c.141 others(641): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CFAP47_chrX_35914734_36390317 | 35966203 | A | GATATTAG others(617): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01928.hp1 HG03239.hp2 others(3): Show |
a0002a0008a0009others(1): Show | a0002c0002a0008c0009a0009c0012others(2): Show | a0002c0002t0001a0008c0009t0001a0009c0012t0001others(2): Show | a0002c0002t0001g0158a0002c0002t0001g0171a0008c0009t0001g0159others(3): Show | 6 | 216 | 0.0278 | 624 | c.141 others(641): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | chrX | TogoVar | ||||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(617): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 428 | 0.0023 | 624 | c.217 others(639): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(617): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 428 | 0.0023 | 624 | c.217 others(639): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(617): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 175 | 0.0057 | 624 | c.164 others(643): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(617): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 264 | 0.0038 | 624 | c.181 others(643): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255884 | A | AGGGGGAA others(617): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0297 | 1 | 344 | 0.0029 | 624 | c.85- others(641): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL4A2_chr13_110302284_110518209 | 110481528 | C | CTCCGTTG others(617): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0112 | 1 | 372 | 0.0027 | 624 | c.275 others(641): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110481916 | C | CTCCGTTG others(617): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0060 | a0007c0060t0015 | a0007c0060t0015g0264 | 1 | 372 | 0.0027 | 624 | c.275 others(641): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CPNE4_chr3_131528569_132040014 | 131978428 | T | TTATATAT others(617): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 94 | 0.0106 | 624 | c.-2+ others(641): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar |