| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TNFRSF10D_chr8_23130588_23169027 | 23147839 | GATCACGA others(1121): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02145.hp1 HG02738.hp2 |
a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0027 | 2 | 444 | 0.0045 | -1128 | c.257 others(15): Show |
TNFRSF10D | ENSG00000173530.6 | transcript | ENST00000312584.4 | protein_coding | 3/9 | chr8 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943584 | CTCTCACC others(1120): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0032a0001c0003t0001g0038a0001c0003t0002g0002others(2): Show | 5 | 106 | 0.0472 | -1127 | c.*66 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2968 | chr20 | TogoVar | ||||||
| MTUS1_chr8_17638802_17806094 | 17723130 | AAAATAAG others(1120): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00735.hp2 HG02004.hp1 HG02280.hp2 others(2): Show |
a0008a0024 | a0008c0020a0024c0067 | a0008c0020t0012a0024c0067t0012 | a0008c0020t0012g0086a0008c0020t0012g0110a0008c0020t0012g0171others(2): Show | 5 | 330 | 0.0152 | -1127 | c.228 others(17): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123170 | CACGGTGG others(1120): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0185 | 1 | 286 | 0.0035 | -1127 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79441943 | GCCGTCTC others(1119): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0017 | 1 | 322 | 0.0031 | -1126 | c.138 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3/9 | chr18 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177993249 | CTCTCAGC others(1118): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0161 | 1 | 170 | 0.0059 | -1125 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50617056 | TGCTTGAA others(1118): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 | 1 | 280 | 0.0036 | -1125 | c.269 others(16): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 3/21 | chr20 | TogoVar | ||||||
| TRNT1_chr3_3121940_3154023 | 3134318 | ACTGCTCT others(1118): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013a0001c0001t0006g0132a0001c0001t0006g0211 | 8 | 402 | 0.0199 | -1125 | c.149 others(17): Show |
TRNT1 | ENSG00000072756.18 | transcript | ENST00000251607.11 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| TSPAN9_chr12_3072379_3291559 | 3197712 | CCACCAGC others(1118): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0167a0001c0001t0001g0174a0001c0001t0001g0175others(38): Show | 41 | 288 | 0.1424 | -1125 | c.-17 others(17): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291247 | CCCCCATG others(1118): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0150a0001c0001t0001g0177others(3): Show | 6 | 284 | 0.0211 | -1125 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033828 | GACGGTGT others(1117): Show |
G | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 3 | 390 | 0.0077 | -1124 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1406184 | ACTTACTG others(1117): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02074.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0024 | a0001c0002t0009g0039a0001c0003t0024g0003 | 2 | 40 | 0.0500 | -1124 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1406198 | ACCTCCTC others(1117): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -1124 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805655 | GACCTCCG others(1117): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 314 | 0.0032 | -1124 | c.*14 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1369 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132298771 | ACACACCT others(1117): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01978.hp1 others(14): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0059a0001c0002t0001g0004a0001c0002t0001g0022others(14): Show | 17 | 183 | 0.0929 | -1124 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960440 | CACAGACT others(1117): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0048 | a0006c0048t0006 | a0006c0048t0006g0108 | 1 | 294 | 0.0034 | -1124 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 10020302 | TTTTCTTT others(1117): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(27): Show | a0001c0001t0001g0004a0001c0001t0002g0013a0001c0001t0002g0018others(28): Show | 31 | 34 | 0.9118 | -1124 | c.-47 others(21): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | ||||||
| KCND2_chr7_120268175_120755337 | 120650210 | TTTTCCAA others(1116): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0021a0001c0001t0001g0022others(18): Show | 21 | 80 | 0.2625 | -1123 | c.111 others(21): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624682 | TCACTGCA others(1115): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0084a0001c0002t0001g0082a0001c0002t0001g0083others(1): Show | 4 | 246 | 0.0163 | -1122 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565597 | GTGACTCT others(1115): Show |
G | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 340 | 0.0029 | -1122 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186128 | GACACGGG others(1115): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 350 | 0.0029 | -1122 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2861 | chr16 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 8660298 | ATATTTAA others(1115): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0031 | 1 | 34 | 0.0294 | -1122 | c.65- others(17): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072135 | GAGCCCCC others(1115): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0009 | 1 | 118 | 0.0085 | -1122 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 897348 | TTCAGTGT others(1115): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0206 | 1 | 402 | 0.0025 | -1122 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3686153 | GCCCCCAG others(1114): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0303 | 1 | 362 | 0.0028 | -1121 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| RNGTT_chr6_88604897_88968618 | 88781475 | AAATCCTA others(1114): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142a0001c0001t0002g0143a0001c0001t0002g0144 | 3 | 220 | 0.0136 | -1121 | c.133 others(21): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 12/15 | chr6 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2280720 | CGATCTTC others(1114): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0060 | a0001c0001t0013g0059a0001c0001t0060g0058 | 2 | 330 | 0.0061 | -1121 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393112 | GGGGAGGG others(1114): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0010 | a0004c0010t0037 | a0004c0010t0037g0245 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393117 | GGGCAGGT others(1114): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0162 | a0001c0001t0162g0291 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1114): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0118 | a0002c0003t0118g0102 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(1113): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0012a0001c0001t0001g0093a0001c0021t0001g0124 | 4 | 344 | 0.0116 | -1120 | c.-20 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991056 | CGAGCACC others(1113): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0183a0001c0001t0006g0262a0001c0001t0006g0263 | 3 | 264 | 0.0114 | -1120 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(1113): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0014g0055 | 4 | 338 | 0.0118 | -1120 | c.*25 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| MUC5AC_chr11_1152953_1206138 | 1182909 | CGATGGCA others(1112): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp1 HG01891.hp2 HG02109.hp2 others(1): Show |
a0017a0028a0056 | a0017c0040a0017c0041a0028c0082others(1): Show | a0017c0040t0003a0017c0041t0002a0028c0082t0003others(1): Show | a0017c0040t0003g0228a0017c0041t0002g0226a0028c0082t0003g0045others(1): Show | 4 | 292 | 0.0137 | -1119 | c.504 others(9): Show |
p.Leu others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 5095/17448 | 5048/16965 | 1683/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| GAL3ST2_chr2_241771822_241809287 | 241806493 | ACCCTCCC others(1111): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 314 | 0.0032 | -1118 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2207 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806532 | ACCCTCCC others(1111): Show |
A | downstream_gene_variant | MODIFIER | HG03492.hp1 NA18999.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0078a0003c0003t0001g0241 | 2 | 314 | 0.0064 | -1118 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806493 | ACCCTCCC others(1111): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 319 | 0.0031 | -1118 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2699 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806532 | ACCCTCCC others(1111): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp1 NA18999.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0161a0001c0005t0001g0061 | 2 | 319 | 0.0063 | -1118 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2660 | chr2 | TogoVar | ||||||
| VPS50_chr7_93227366_93366123 | 93365006 | GGAAGGAT others(1110): Show |
G | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 3 | 316 | 0.0095 | -1117 | c.*65 others(11): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 3884 | chr7 | TogoVar | ||||||
| ZNF837_chr19_58362623_58386030 | 58363650 | CGAGGTCA others(1110): Show |
C | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 412 | 0.0024 | -1117 | c.*29 others(11): Show |
ZNF837 | ENSG00000152475.7 | transcript | ENST00000597582.2 | protein_coding | 3972 | chr19 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10638999 | CGATGTTA others(1109): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0002 | a0001c0002t0001g0147a0001c0002t0001g0148a0001c0002t0001g0194others(3): Show | 6 | 324 | 0.0185 | -1116 | c.637 others(16): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168571995 | GCATCCCC others(1109): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008 | a0001c0001t0001g0124a0001c0002t0002g0032a0001c0002t0002g0052others(4): Show | 7 | 180 | 0.0389 | -1116 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393283 | AGGCAGGT others(1109): Show |
A | intron_variant | MODIFIER | HG03239.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0234a0001c0001t0014g0235 | 2 | 346 | 0.0058 | -1116 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393614 | AGGTGGTC others(1109): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0014 | a0001c0014t0008 | a0001c0014t0008g0278 | 1 | 346 | 0.0029 | -1116 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393677 | GAAGGCAG others(1109): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0004 | 1 | 346 | 0.0029 | -1116 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| FAM9A_chrX_8785795_8806383 | 8799524 | CGGCGGCC others(1108): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03239.hp1 | a0005 | a0005c0010 | a0005c0010t0005 | a0005c0010t0005g0089 | 1 | 303 | 0.0033 | -1115 | c.-38 others(14): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 2/10 | chrX | TogoVar | ||||||
| FAM9A_chrX_8785795_8806383 | 8799835 | CGGGCCCT others(1108): Show |
C | exon_loss_variant others(1): Show |
HIGH | NA19084.hp2 | a0005 | a0005c0010 | a0005c0010t0005 | a0005c0010t0005g0095 | 1 | 303 | 0.0033 | -1115 | c.-39 others(14): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 2/10 | chrX | TogoVar | ||||||
| MARCHF8_chr10_45449585_45540371 | 45512622 | GGCCAGCC others(1107): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0004 | a0004c0003 | a0004c0003t0020 | a0004c0003t0020g0292 | 1 | 348 | 0.0029 | -1114 | c.102 others(19): Show |
MARCHF8 | ENSG00000165406.16 | transcript | ENST00000453424.7 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3174672 | CTCATGGG others(1107): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -1114 | c.-41 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4096 | chr19 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291361 | CCCCGTGT others(1107): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 284 | 0.0035 | -1114 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar |