| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC12A7_chr5_1045384_1117063 | 1072348 | CTGGCATC others(612): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0030 | 1 | 118 | 0.0085 | -619 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TRIM27_chr6_28898002_28928985 | 28927018 | GGAGGTTG others(612): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 409 | 0.0024 | -619 | c.-40 others(11): Show |
TRIM27 | ENSG00000204713.11 | transcript | ENST00000377199.4 | protein_coding | 3034 | chr6 | TogoVar | ||||||
| ARHGAP44_chr17_12784498_12996643 | 12825454 | GAGAGATT others(611): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 230 | 0.0044 | -618 | c.53+ others(17): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1406251 | TGTCCTCC others(611): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -618 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565272 | GGGGTGAC others(611): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 340 | 0.0029 | -618 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1022549 | GTCTCAGC others(611): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG01978.hp2 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0024others(9): Show | 12 | 319 | 0.0376 | -618 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RYR1_chr19_38428691_38592564 | 38540230 | TTTAGGAG others(611): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0098 | a0001c0098t0001 | a0001c0098t0001g0071 | 1 | 218 | 0.0046 | -618 | c.116 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168594443 | CTCCGAGC others(611): Show |
C | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 180 | 0.0056 | -618 | c.638 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| ADCY3_chr2_24814169_24925237 | 24829669 | GCCTTGGC others(610): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02258.hp1 others(5): Show |
a0001a0002 | a0001c0004a0001c0010a0001c0021others(1): Show | a0001c0004t0005a0001c0004t0008a0001c0010t0008others(2): Show | a0001c0004t0005g0046a0001c0004t0008g0229a0001c0004t0008g0235others(5): Show | 8 | 272 | 0.0294 | -617 | c.217 others(18): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 13/21 | chr2 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430492 | CGGTCTGG others(610): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 360 | 0.0028 | -617 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1431747 | TCAGCAGT others(610): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0181 | 1 | 360 | 0.0028 | -617 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DCBLD1_chr6_117477674_117554797 | 117480589 | TTCTTAAC others(610): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 370 | 0.0027 | -617 | c.-21 others(11): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 2084 | chr6 | TogoVar | ||||||
| HOMER3_chr19_18924203_18946217 | 18935820 | AACCAGCC others(610): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01255.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0079others(5): Show | 16 | 412 | 0.0388 | -617 | c.303 others(17): Show |
HOMER3 | ENSG00000051128.19 | transcript | ENST00000392351.8 | protein_coding | 4/9 | chr19 | TogoVar | ||||||
| IFT46_chr11_118539543_118570931 | 118547983 | TGATCCGC others(610): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210a0002c0002t0001g0260 | 2 | 380 | 0.0053 | -617 | c.673 others(17): Show |
IFT46 | ENSG00000118096.10 | transcript | ENST00000264021.8 | protein_coding | 9/11 | chr11 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1365787 | AGCGGGGT others(610): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0085 | 1 | 115 | 0.0087 | -617 | c.874 others(16): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1025988 | GCTAGTGG others(610): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02148.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0043a0001c0001t0001g0198a0001c0001t0003g0013others(1): Show | 4 | 319 | 0.0125 | -617 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| POU6F2_chr7_38972909_39473601 | 39347667 | TGTCACCC others(610): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01070.hp2 others(11): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0007c0011others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0097a0001c0001t0002g0099a0001c0001t0002g0119others(11): Show | 14 | 170 | 0.0824 | -617 | c.972 others(17): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SELENOI_chr2_26341143_26400885 | 26370447 | ACCCCTCA others(610): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 334 | 0.0030 | -617 | c.311 others(17): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF836_chr19_52149107_52176621 | 52163513 | GCCTGTAA others(610): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 468 | 0.0021 | -617 | c.16- others(15): Show |
ZNF836 | ENSG00000196267.14 | transcript | ENST00000682614.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1052361 | GGAGGGTT others(609): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0238 | 1 | 337 | 0.0030 | -616 | c.156 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288683 | CCGTGTCC others(609): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 295 | 0.0034 | -616 | c.*42 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3707 | chr1 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395951 | TGTCCTCC others(609): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 | 1 | 236 | 0.0042 | -616 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713679 | CACCCTTC others(609): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0002t0001g0002 | 5 | 412 | 0.0121 | -616 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 887 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713688 | TCCCATCC others(609): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp1 HG02129.hp2 NA18944.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 6 | 412 | 0.0146 | -616 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 878 | chr19 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566874 | TGTCTGTG others(609): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | 340 | 0.0088 | -616 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806918 | TCCCCCCT others(609): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 314 | 0.0032 | -616 | c.*27 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2632 | chr2 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991285 | ACCGCTGG others(609): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02055.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0125a0001c0001t0001g0126others(12): Show | 15 | 264 | 0.0568 | -616 | c.141 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806918 | TCCCCCCT others(609): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 319 | 0.0031 | -616 | c.-23 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2274 | chr2 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934077 | GCGTTACA others(609): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01943.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0061a0001c0004t0001g0062 | 2 | 434 | 0.0046 | -616 | c.843 others(17): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291843 | TCCGTGTC others(609): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 284 | 0.0035 | -616 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112785938 | GTTCAGAC others(608): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02647.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0021a0001c0004t0003others(4): Show | a0001c0001t0002g0050a0001c0001t0021g0240a0001c0004t0003g0034others(9): Show | 12 | 254 | 0.0472 | -615 | c.162 others(16): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112785949 | ATTTATCT others(608): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 |
a0001 | a0001c0014 | a0001c0014t0003a0001c0014t0043 | a0001c0014t0003g0178a0001c0014t0043g0056 | 2 | 254 | 0.0079 | -615 | c.162 others(16): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| IDI1_chr10_1034419_1054119 | 1046984 | TCTACACC others(608): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 438 | 0.0023 | -615 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| ITGAD_chr16_31388335_31431505 | 31390790 | TGGAAAAC others(608): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 376 | 0.0027 | -615 | c.-25 others(11): Show |
ITGAD | ENSG00000156886.12 | transcript | ENST00000389202.3 | protein_coding | 2544 | chr16 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085610 | CTGCGTGG others(608): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA18941.hp1 NA18993.hp1 others(6): Show |
a0001a0007a0033others(1): Show | a0001c0002a0001c0003a0001c0024others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0024t0002others(5): Show | a0001c0002t0001g0383a0001c0003t0001g0198a0001c0003t0001g0372others(6): Show | 9 | 403 | 0.0223 | -615 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NTN5_chr19_48656407_48678017 | 48669040 | TCACCACC others(608): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015a0001c0002t0002g0128a0001c0002t0002g0129 | 7 | 412 | 0.0170 | -615 | c.631 others(16): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
| NWD2_chr4_37239743_37454463 | 37330765 | CCATCACC others(608): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0209 | 1 | 296 | 0.0034 | -615 | c.240 others(17): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66798674 | ATGGTGGT others(608): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0099 | 1 | 178 | 0.0056 | -615 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RGPD4_chr2_107821892_107897544 | 107828133 | GGCCTCGA others(608): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0196 | 1 | 374 | 0.0027 | -615 | c.72+ others(15): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| S1PR4_chr19_3173769_3185332 | 3175171 | CTCATGGG others(608): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000others(2): Show | 22 | 418 | 0.0526 | -615 | c.-36 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 3597 | chr19 | TogoVar | ||||||
| SGTA_chr19_2749715_2788273 | 2773156 | AGGGACTC others(608): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA18967.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 2 | 396 | 0.0051 | -615 | c.-23 others(17): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1071000 | GAGCCCCC others(608): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0028 | 1 | 118 | 0.0085 | -615 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628356 | CAGGGGGT others(608): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0099 | a0001c0004t0099g0343 | 1 | 352 | 0.0028 | -615 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TNR_chr1_175310194_175748595 | 175442391 | TCCTAGGG others(608): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0027a0001c0003t0004 | a0001c0002t0027g0002a0001c0003t0004g0132 | 2 | 132 | 0.0152 | -615 | c.-63 others(19): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82976146 | GAGGGCCC others(607): Show |
G | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0226 | 1 | 266 | 0.0038 | -614 | c.460 others(19): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1116532 | AGGACCGG others(607): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 326 | 0.0031 | -614 | c.129 others(19): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1401742 | TCCAGAGT others(607): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -614 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565692 | TCTGTCTG others(607): Show |
T | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 340 | 0.0029 | -614 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| PPP2R5C_chr14_101756709_101932977 | 101782137 | CCCCATCC others(607): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0120 | 1 | 138 | 0.0073 | -614 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PPP2R5C_chr14_101756709_101932977 | 101782141 | ATCCCTCT others(607): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0103 | 1 | 138 | 0.0073 | -614 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |