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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79336102 | A | ACCATGCC others(365): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(4): Show |
7 | 298 | 0.0235 | 372 | c.202 others(389): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336105 | A | ATGCCCTC others(365): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0119 | 1 | 298 | 0.0034 | 372 | c.202 others(389): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(365): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 298 | 0.0034 | 372 | c.202 others(389): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(365): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 298 | 0.0034 | 372 | c.202 others(389): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374700 | G | GGAGGGAG others(365): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0096 | 1 | 184 | 0.0054 | 372 | c.784 others(387): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(365): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0140 | 1 | 184 | 0.0054 | 372 | c.784 others(387): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTATATAT others(365): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0060 | 1 | 216 | 0.0046 | 372 | c.-2- others(389): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107096117 | T | TAAACATG others(365): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 368 | 0.0027 | 372 | c.240 others(389): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51326590 | T | TAGAAGTT others(365): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 400 | 0.0025 | 372 | c.-24 others(383): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2417 | chr12 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278986 | C | CGGAGGGA others(365): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19043.hp1 |
a0001a0002 | a0001c0006a0002c0008 | a0001c0006t0001a0002c0008t0001 | a0001c0006t0001g0357 a0002c0008t0001g0267 |
2 | 410 | 0.0049 | 372 | c.465 others(387): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279001 | C | CGGGACGG others(365): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 410 | 0.0024 | 372 | c.465 others(387): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279017 | A | AGGGAGGG others(365): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0240 a0001c0001t0007g0036 |
2 | 410 | 0.0049 | 372 | c.465 others(387): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585417 | G | GGGAGAGG others(365): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0289 | 1 | 354 | 0.0028 | 372 | c.-22 others(389): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397938 | A | ATGGCGGT others(365): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0174 | 1 | 400 | 0.0025 | 372 | c.363 others(389): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2462201 | C | CGGCTCAG others(365): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0034 | a0001c0034t0020 | a0001c0034t0020g0070 | 1 | 104 | 0.0096 | 372 | c.757 others(389): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(365): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0319 | 1 | 410 | 0.0024 | 372 | c.-22 others(389): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544780 | T | TCGTCTCC others(365): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0334 | 1 | 410 | 0.0024 | 372 | c.-22 others(389): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(365): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 386 | 0.0026 | 372 | c.803 others(386): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(365): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01109.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0003g0157 a0001c0001t0003g0172 a0001c0001t0003g0249 others(8): Show |
12 | 386 | 0.0311 | 372 | c.803 others(386): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 419412 | T | TTCCATTA others(365): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0365 | 1 | 432 | 0.0023 | 372 | c.413 others(387): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(365): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0015 | a0015c0042 | a0015c0042t0036 | a0015c0042t0036g0325 | 1 | 334 | 0.0030 | 372 | c.-25 others(383): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51326590 | T | TAGAAGTT others(365): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 406 | 0.0025 | 372 | c.*19 others(383): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1851 | chr12 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939896 | A | AAGAAAGA others(365): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 258 | 0.0039 | 372 | c.403 others(387): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911163 | G | GTGTGTAT others(365): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 245 | 0.0041 | 372 | c.124 others(387): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911163 | G | GTGTGTAT others(365): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 a0001c0002t0002g0057 |
2 | 245 | 0.0082 | 372 | c.124 others(387): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575549 | T | TGTGTGTA others(365): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 372 | 0.0027 | 372 | c.894 others(387): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575863 | C | CACGCGTA others(365): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0219 | 1 | 372 | 0.0027 | 372 | c.894 others(387): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136885 | T | TTTATATT others(365): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 152 | 0.0066 | 372 | c.432 others(391): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGAGGGCT others(365): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0206 | 1 | 342 | 0.0029 | 372 | c.844 others(389): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGAGGGCT others(365): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0202 | 1 | 342 | 0.0029 | 372 | c.844 others(389): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGAGGGCT others(365): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(22): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0001a0002c0003t0002a0002c0007t0002 | a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 others(21): Show |
25 | 342 | 0.0731 | 372 | c.844 others(389): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485402 | G | GGAGGGCT others(365): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02976.hp2 NA21309.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 |
3 | 342 | 0.0088 | 372 | c.844 others(389): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(365): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19030.hp1 |
a0002 | a0002c0003a0002c0009 | a0002c0003t0002a0002c0009t0014 | a0002c0003t0002g0175 a0002c0009t0014g0012 |
2 | 182 | 0.0110 | 372 | c.267 others(389): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(365): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 236 | 0.0042 | 372 | c.294 others(389): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45999935 | T | TGGGAAGA others(365): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp1 |
a0002a0031 | a0002c0001a0031c0049 | a0002c0001t0009a0031c0049t0009 | a0002c0001t0009g0038 a0031c0049t0009g0122 |
2 | 128 | 0.0156 | 372 | c.177 others(389): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978464 | A | ATTTATAT others(365): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 94 | 0.0106 | 372 | c.-2+ others(389): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198317 | C | CAGGACAC others(365): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 167 | 0.0060 | 372 | c.646 others(387): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(365): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19082.hp1 |
a0001a0024 | a0001c0001a0024c0027 | a0001c0001t0001a0024c0027t0007 | a0001c0001t0001g0045 a0024c0027t0007g0068 |
2 | 167 | 0.0120 | 372 | c.646 others(387): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(365): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0212 | 1 | 334 | 0.0030 | 372 | c.290 others(387): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(365): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0191 | 1 | 216 | 0.0046 | 372 | c.923 others(391): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGGAGGA others(365): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0182 | 1 | 216 | 0.0046 | 372 | c.923 others(391): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(365): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0145 | 1 | 230 | 0.0044 | 372 | c.724 others(391): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132148960 | C | CACACCAC others(365): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0051 | 1 | 334 | 0.0030 | 372 | c.-46 others(383): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4642 | chr12 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 664411 | C | CCAGCTAT others(365): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0200 |
3 | 345 | 0.0087 | 372 | c.150 others(393): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 664550 | G | GAGAGGAG others(365): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 345 | 0.0029 | 372 | c.150 others(391): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 665021 | G | GAGTCCTG others(365): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02451.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 a0001c0002t0001g0240 a0001c0002t0001g0243 others(4): Show |
7 | 345 | 0.0203 | 372 | c.150 others(391): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397733 | T | TGGGGGTG others(365): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 367 | 0.0027 | 372 | c.-42 others(383): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4151 | chr16 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123404933 | T | TACCCTTT others(365): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0115 | 1 | 162 | 0.0062 | 372 | c.154 others(391): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 20/23 | chr9 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397028 | C | CAGAGTGA others(365): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0250 a0001c0001t0011g0291 a0001c0001t0011g0292 |
3 | 336 | 0.0089 | 372 | c.348 others(389): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | chr2 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GAGGGGAG others(365): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0081 | 1 | 88 | 0.0114 | 372 | c.158 others(389): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar |