| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RHOJ_chr14_63199443_63298508 | 63257033 | CTGCACTC others(1149): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG02015.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0026a0001c0001t0002g0006a0001c0001t0002g0089others(24): Show | 29 | 320 | 0.0906 | -1156 | c.179 others(19): Show |
RHOJ | ENSG00000126785.13 | transcript | ENST00000316754.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ASMTL_chrX_1398139_1457909 | 1408376 | CCTCCAGC others(1148): Show |
C | intron_variant | MODIFIER | HG01358.hp1 NA18955.hp1 |
a0004a0017 | a0004c0006a0017c0022 | a0004c0006t0001a0017c0022t0001 | a0004c0006t0001g0059a0017c0022t0001g0017 | 2 | 185 | 0.0108 | -1155 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| TTC39C_chr18_24009754_24140600 | 24046200 | AGTGCTGG others(1148): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0025a0001c0001t0033others(2): Show | a0001c0001t0019g0221a0001c0001t0025g0263a0001c0001t0025g0264others(4): Show | 7 | 328 | 0.0213 | -1155 | c.168 others(19): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1637366 | CTCCTGAT others(1147): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 223 | 0.0045 | -1154 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| APIP_chr11_34877295_34921379 | 34900255 | TCCCAGAG others(1146): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 355 | 0.0028 | -1153 | c.58- others(15): Show |
APIP | ENSG00000149089.13 | transcript | ENST00000395787.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248746722 | GCACCCAC others(1146): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 374 | 0.0027 | -1153 | c.337 others(16): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| SKP2_chr5_36147111_36189319 | 36173620 | CTTAAAAT others(1146): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0102 | 1 | 402 | 0.0025 | -1153 | c.901 others(17): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1372935 | GGCACACC others(1146): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0058a0001c0003t0002others(1): Show | a0001c0001t0002g0004a0001c0001t0058g0227a0001c0003t0002g0003others(3): Show | 6 | 322 | 0.0186 | -1153 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1145): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0251 | 1 | 339 | 0.0030 | -1152 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195780884 | CCTGACCT others(1145): Show |
C | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -1152 | c.954 others(10): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10807/16756 | 9544/16239 | 3182/5412 | chr3 | TogoVar | ||
| NXN_chr17_794310_984776 | 924329 | TGGGTTCA others(1145): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 242 | 0.0041 | -1152 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| SLC66A1_chr1_19307326_19334300 | 19320695 | GTGAGCCA others(1145): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0138a0001c0001t0001g0139others(14): Show | 17 | 456 | 0.0373 | -1152 | c.164 others(17): Show |
SLC66A1 | ENSG00000040487.13 | transcript | ENST00000375153.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VAV2_chr9_133756894_133997324 | 133827216 | GCTACTGC others(1145): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0188 | 1 | 200 | 0.0050 | -1152 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827250 | CGGGGGCA others(1145): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0128 | 1 | 200 | 0.0050 | -1152 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827300 | GGGGCATC others(1145): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0002a0001c0003t0003a0001c0003t0008others(1): Show | a0001c0003t0002g0049a0001c0003t0002g0050a0001c0003t0002g0051others(4): Show | 7 | 200 | 0.0350 | -1152 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277551 | AGAGAGAG others(1144): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 50 | 0.0200 | -1151 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241566228 | GAGCCGAG others(1143): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 434 | 0.0023 | -1150 | c.349 others(17): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765355 | CTTGGGGA others(1143): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0023 | a0004c0023t0002 | a0004c0023t0002g0174 | 1 | 412 | 0.0024 | -1150 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1399982 | ACCTCCTT others(1143): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -1150 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1400588 | ATCCTCCA others(1143): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02922.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0023a0002c0001t0002a0002c0001t0005others(1): Show | a0001c0002t0023g0005a0002c0001t0002g0032a0002c0001t0005g0035others(1): Show | 4 | 40 | 0.1000 | -1150 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1400687 | AAAGTCGT others(1143): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -1150 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565454 | ACTGTCTG others(1143): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249a0001c0001t0001g0250 | 2 | 340 | 0.0059 | -1150 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238115 | CCTCCCTC others(1142): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 106 | 0.0094 | -1149 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51774717 | TCTCCTAC others(1141): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 420 | 0.0024 | -1148 | c.363 others(16): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565752 | TCTGTCTG others(1141): Show |
T | intron_variant | MODIFIER | HG01515.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266a0001c0001t0002g0312 | 2 | 340 | 0.0059 | -1148 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565774 | GGGGTGAC others(1141): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 340 | 0.0029 | -1148 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GRM5_chr11_88499642_89070982 | 88502476 | TCAAAAAA others(1141): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0012 | a0004c0012t0026 | a0004c0012t0026g0016 | 1 | 184 | 0.0054 | -1148 | c.*49 others(11): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 2165 | chr11 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18261189 | TGTCTTGC others(1141): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 247 | 0.0041 | -1148 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10638938 | GATATTAG others(1140): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(110): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(13): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(33): Show | a0001c0002t0001g0041a0001c0002t0001g0046a0001c0002t0001g0063others(110): Show | 113 | 324 | 0.3488 | -1147 | c.637 others(16): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COL4A4_chr2_226997714_227169205 | 227046239 | AATAAAAT others(1140): Show |
A | intron_variant | MODIFIER | HG02970.hp2 NA21309.hp2 |
a0016 | a0016c0064a0016c0065 | a0016c0064t0005a0016c0065t0005 | a0016c0064t0005g0178a0016c0065t0005g0150 | 2 | 284 | 0.0070 | -1147 | c.328 others(17): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092488 | GAACCGCA others(1140): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 340 | 0.0029 | -1147 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCML2_chrX_18234313_18359688 | 18261189 | TGTCTTGC others(1140): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0227a0001c0001t0001g0234 | 3 | 247 | 0.0122 | -1147 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1012958 | AGGGCAGA others(1140): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 190 | 0.0053 | -1147 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1888885 | GGAGACAC others(1139): Show |
G | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161 | 1 | 363 | 0.0028 | -1146 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GXYLT1_chr12_42076845_42149874 | 42112735 | GAACTTCC others(1139): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0037others(1): Show | a0001c0001t0009g0003a0001c0001t0009g0254a0001c0001t0009g0255others(7): Show | 12 | 398 | 0.0302 | -1146 | c.487 others(17): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 3/7 | chr12 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18261191 | TCTTGCTA others(1139): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0228a0001c0001t0001g0230others(3): Show | 6 | 247 | 0.0243 | -1146 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| SLC9A9_chr3_143260222_143853468 | 143431639 | GCCCGGCT others(1139): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 108 | 0.0093 | -1146 | c.146 others(21): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18261191 | TCTTGCTA others(1138): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0231a0001c0001t0001g0232 | 3 | 247 | 0.0122 | -1145 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154660540 | GTTCATAT others(1137): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0015 | a0001c0015t0017 | a0001c0015t0017g0036 | 1 | 38 | 0.0263 | -1144 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174083 | CCTGTAGC others(1137): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 223 | 0.0045 | -1144 | c.-99 others(18): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SCML2_chrX_18234313_18359688 | 18261193 | TTGCTATG others(1137): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 247 | 0.0041 | -1144 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393094 | GGGCAGGT others(1137): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0010 | a0004c0010t0036 | a0004c0010t0036g0145 | 1 | 346 | 0.0029 | -1144 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CLPTM1_chr19_44950380_44998341 | 44969848 | CGGCTAAT others(1136): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00735.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0043a0001c0001t0001g0044others(25): Show | 31 | 374 | 0.0829 | -1143 | c.186 others(17): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393156 | GGGGGGAA others(1136): Show |
G | intron_variant | MODIFIER | HG03688.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0024a0001c0001t0020g0035 | 2 | 346 | 0.0058 | -1143 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CERS6_chr2_168451272_168780134 | 168730615 | CTTACTGT others(1135): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0045 | 1 | 176 | 0.0057 | -1142 | c.845 others(19): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FAM149A_chr4_186099704_186180337 | 186175905 | CTGGAATG others(1134): Show |
C | downstream_gene_variant | MODIFIER | NA18970.hp2 NA19062.hp1 |
a0006 | a0006c0023 | a0006c0023t0001a0006c0023t0080 | a0006c0023t0001g0126a0006c0023t0080g0127 | 2 | 390 | 0.0051 | -1141 | c.*39 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 569 | chr4 | TogoVar | ||||||
| ANKRD55_chr5_56094680_56238330 | 56133379 | TAGTGAGC others(1133): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(111): Show | 115 | 308 | 0.3734 | -1140 | c.613 others(17): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 7/11 | chr5 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077283 | TCTATGGG others(1133): Show |
T | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 326 | 0.0031 | -1140 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4539 | chr1 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077301 | CGGGAGGC others(1133): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0302 | 1 | 326 | 0.0031 | -1140 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4521 | chr1 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 948506 | CGACAGAG others(1133): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0022 | a0022c0042 | a0022c0042t0001 | a0022c0042t0001g0084 | 1 | 294 | 0.0034 | -1140 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar |