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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC22_chr6_31005474_31040402 | 31026249 | CAGGCTCT others(1067): Show |
C | disruptive_inframe_deletion | MODERATE | HG02027.hp2 HG02135.hp2 |
a0041 | a0041c0051 | a0041c0051t0001 | a0041c0051t0001g0050 | 2 | 453 | 0.0044 | -1074 | c.834 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1067/6019 | 834/5322 | 278/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
ZKSCAN5_chr7_99499662_99539700 | 99532543 | CAGTCTTC others(1067): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 NA18967.hp2 NA18979.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0012a0001c0001t0020a0004c0009t0012 | a0001c0001t0012g0099 a0001c0001t0020g0002 a0004c0009t0012g0098 |
3 | 310 | 0.0097 | -1074 | c.*29 others(10): Show |
ZKSCAN5 | ENSG00000196652.12 | transcript | ENST00000326775.10 | protein_coding | 7/7 | 299 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1066): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0006a0007others(3): Show | a0001c0002a0001c0003a0001c0005others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(39): Show | a0001c0002t0001g0036 a0001c0002t0001g0059 a0001c0002t0001g0061 others(85): Show |
88 | 182 | 0.4835 | -1073 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(1066): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
a0002 | a0002c0001a0002c0011 | a0002c0001t0002a0002c0011t0002 | a0002c0001t0002g0186 a0002c0011t0002g0168 a0002c0011t0002g0187 others(3): Show |
6 | 136 | 0.0441 | -1073 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAPK3_chr19_3953453_3976099 | 3973460 | CGGGAGGC others(1066): Show |
C | upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 362 | 0.0028 | -1073 | c.-37 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 2362 | chr19 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3973460 | CGGGAGGC others(1066): Show |
C | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0092 | 1 | 402 | 0.0025 | -1073 | c.*20 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2595 | chr19 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1013294 | GCAGAGAG others(1066): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0011 | 1 | 187 | 0.0053 | -1073 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43232551 | AAAGAAAA others(1065): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01243.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0149 a0001c0001t0001g0150 others(21): Show |
26 | 328 | 0.0793 | -1072 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 3929 | chr17 | TogoVar | |||||||
CDK11A_chr1_1697379_1729357 | 1724981 | CCCGAGTA others(1065): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02922.hp2 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0023 a0006c0007t0007g0053 a0006c0007t0007g0054 |
4 | 370 | 0.0108 | -1072 | c.-18 others(10): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 625 | chr1 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3973026 | CATCCTGG others(1065): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp2 HG03471.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0002g0002 a0001c0001t0002g0046 |
3 | 360 | 0.0083 | -1072 | c.-32 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 1928 | chr19 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3973097 | TGCCTGTA others(1065): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(13): Show |
26 | 360 | 0.0722 | -1072 | c.-33 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 1999 | chr19 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3973026 | CATCCTGG others(1065): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp2 HG03471.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0115 others(1): Show |
4 | 400 | 0.0100 | -1072 | c.*24 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 3029 | chr19 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3973097 | TGCCTGTA others(1065): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01361.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0004 a0001c0001t0004g0023 a0001c0001t0004g0024 others(6): Show |
23 | 400 | 0.0575 | -1072 | c.*23 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2958 | chr19 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543567 | GGTAGTGA others(1065): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 215 | 0.0047 | -1072 | c.153 others(18): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 255216 | TGTGACTA others(1065): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 99 | 0.0101 | -1072 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
DAPK3_chr19_3953453_3976099 | 3973709 | GGGCCAGA others(1064): Show |
G | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 362 | 0.0028 | -1071 | c.-39 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 2611 | chr19 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(1064): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0198 a0001c0001t0001g0261 others(2): Show |
6 | 278 | 0.0216 | -1071 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186196 | GACACGGG others(1064): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0185 a0001c0001t0001g0313 others(1): Show |
4 | 348 | 0.0115 | -1071 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2793 | chr16 | TogoVar | |||||||
ABL1_chr9_130830254_130892675 | 130876782 | GCTGGAGT others(1063): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01255.hp1 others(23): Show |
a0001 | a0001c0003a0001c0007a0001c0023 | a0001c0003t0003a0001c0003t0005a0001c0003t0016others(4): Show | a0001c0003t0003g0012 a0001c0003t0003g0138 a0001c0003t0003g0147 others(21): Show |
26 | 276 | 0.0942 | -1070 | c.127 others(18): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1638643 | ATGATGGG others(1063): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 220 | 0.0045 | -1070 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1639056 | TGATGGGG others(1063): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 221 | 0.0045 | -1070 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DAPK3_chr19_3953453_3976099 | 3973361 | AGCTTGAG others(1063): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(100): Show |
308 | 362 | 0.8508 | -1070 | c.-36 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 2263 | chr19 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211317 | TATTTACT others(1063): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02809.hp1 NA18968.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0031 | a0001c0001t0001g0135 a0001c0001t0020g0097 a0001c0002t0031g0008 |
3 | 98 | 0.0306 | -1070 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3973361 | AGCTTGAG others(1063): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
350 | 402 | 0.8706 | -1070 | c.*21 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2694 | chr19 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132718350 | AGCTGTCT others(1063): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 202 | 0.0050 | -1070 | c.647 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 700978 | CAGCCAGG others(1063): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0346 | 1 | 364 | 0.0027 | -1070 | c.-51 others(11): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 4853 | chr4 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133760073 | GCCAGGAG others(1063): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0156 | 1 | 198 | 0.0051 | -1070 | c.*29 others(11): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1820 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062191 | TGTTGTTA others(1062): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0218 | 1 | 336 | 0.0030 | -1069 | c.118 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237989 | TACTCCCC others(1062): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 100 | 0.0100 | -1069 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120353359 | GCAATGGC others(1062): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0010 | 1 | 216 | 0.0046 | -1069 | c.507 others(19): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRKG2_chr4_81082375_81220222 | 81132839 | CCTCTCTT others(1062): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0214 a0001c0001t0003g0245 |
2 | 248 | 0.0081 | -1069 | c.177 others(19): Show |
PRKG2 | ENSG00000138669.10 | transcript | ENST00000264399.6 | protein_coding | 14/18 | chr4 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133760071 | GGGCCAGG others(1062): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp1 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(19): Show | a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0103 others(71): Show |
74 | 198 | 0.3737 | -1069 | c.*29 others(11): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1822 | chr9 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361678 | ACCACCTC others(1061): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0177 | 1 | 225 | 0.0044 | -1068 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133760072 | GGCCAGGA others(1061): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG03490.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0107 a0002c0001t0001g0164 |
2 | 197 | 0.0102 | -1068 | c.*29 others(11): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1821 | chr9 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1640618 | GAGATAGG others(1060): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0134 a0001c0001t0003g0089 |
2 | 221 | 0.0090 | -1067 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1122457 | GACATAAA others(1060): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0007t0001 | a0001c0004t0001g0080 a0001c0007t0001g0066 |
2 | 230 | 0.0087 | -1067 | c.-82 others(19): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834427 | TCCTGGGT others(1060): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 392 | 0.0026 | -1067 | c.127 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288276 | CCCGAGTC others(1059): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 291 | 0.0034 | -1066 | c.*42 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4114 | chr1 | TogoVar | |||||||
HLA-DOB_chr6_32807763_32822002 | 32810977 | GTTTCACC others(1059): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(289): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0034 others(23): Show |
292 | 458 | 0.6376 | -1066 | c.*11 others(11): Show |
HLA-DOB | ENSG00000241106.8 | transcript | ENST00000438763.7 | protein_coding | 1785 | chr6 | TogoVar | |||||||
NCKAP5L_chr12_49786152_49833413 | 49826266 | GAGACGTA others(1059): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 364 | 0.0027 | -1066 | c.-99 others(16): Show |
NCKAP5L | ENSG00000167566.17 | transcript | ENST00000335999.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1288276 | CCCGAGTC others(1059): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0026 | a0026c0033 | a0026c0033t0009 | a0026c0033t0009g0276 | 1 | 287 | 0.0035 | -1066 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | |||||||
ZNF679_chr7_64223474_64271931 | 64229540 | ATAATCCC others(1059): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0144 | 1 | 420 | 0.0024 | -1066 | c.-91 others(16): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2972797 | TGTTCTCC others(1058): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0010a0001c0006t0004 | a0001c0005t0010g0001 a0001c0006t0004g0004 |
2 | 116 | 0.0172 | -1065 | c.135 others(21): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1024390 | TGTGGGCG others(1058): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 294 | 0.0034 | -1065 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
PWP1_chr12_107680799_107718162 | 107686811 | AAAAAATT others(1058): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 340 | 0.0029 | -1065 | c.72+ others(13): Show |
PWP1 | ENSG00000136045.12 | transcript | ENST00000412830.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RBM5_chr3_50083919_50124021 | 50086315 | AGCTACTC others(1058): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 282 | 0.0035 | -1065 | c.-27 others(11): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 2603 | chr3 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88954624 | TCCACCCA others(1057): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 279 | 0.0036 | -1064 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61783486 | CTGTGCCC others(1057): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG02965.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0041a0002c0002t0003 | a0001c0003t0001g0015 a0001c0003t0041g0086 a0002c0002t0003g0067 |
3 | 106 | 0.0283 | -1064 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565600 | ACTCTGTC others(1057): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 229 | 0.0044 | -1064 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137818525 | ATGTACCG others(1057): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(34): Show |
37 | 168 | 0.2202 | -1064 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |