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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2276): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 334 | 0.0030 | 2283 | c.147 others(2300): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882499 | G | GGAGAAGG others(2276): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0107 | 1 | 288 | 0.0035 | 2283 | c.303 others(2302): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2276): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0186 | 1 | 371 | 0.0027 | 2283 | c.*92 others(2294): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(2276): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 236 | 0.0042 | 2283 | c.294 others(2300): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2276): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0058 | a0001c0001t0004g0279a0001c0001t0004g0280a0001c0001t0015g0273others(2): Show | 5 | 368 | 0.0136 | 2283 | c.353 others(2300): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2276): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0255a0001c0001t0040g0270 | 2 | 368 | 0.0054 | 2283 | c.353 others(2300): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2276): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG02300.hp1 others(5): Show |
a0001a0005a0008 | a0001c0010a0001c0033a0005c0034others(1): Show | a0001c0010t0001a0001c0033t0001a0005c0034t0015others(1): Show | a0001c0010t0001g0115a0001c0010t0001g0271a0001c0010t0001g0272others(5): Show | 8 | 294 | 0.0272 | 2283 | c.515 others(2300): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2276): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0280 | 1 | 294 | 0.0034 | 2283 | c.515 others(2300): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTTC others(2276): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0257 | 1 | 295 | 0.0034 | 2283 | c.126 others(2302): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCGGGAG others(2276): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 295 | 0.0034 | 2283 | c.126 others(2302): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2276): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 361 | 0.0028 | 2283 | c.-48 others(2294): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(2277): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 338 | 0.0030 | 2284 | c.300 others(2301): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2277): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0027 | 1 | 371 | 0.0027 | 2284 | c.*92 others(2295): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2277): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0260 | 1 | 345 | 0.0029 | 2284 | c.*16 others(2295): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218216 | A | ACCCACAA others(2277): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 106 | 0.0094 | 2284 | c.*26 others(2295): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1047 | chr8 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2277): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0033 | a0002c0033t0047 | a0002c0033t0047g0054 | 1 | 234 | 0.0043 | 2284 | c.816 others(2301): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2277): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0051 | 1 | 276 | 0.0036 | 2284 | c.58- others(2301): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2277): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 361 | 0.0028 | 2284 | c.-48 others(2295): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(2277): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 338 | 0.0030 | 2284 | c.*35 others(2303): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTGGG others(2277): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 344 | 0.0029 | 2284 | c.218 others(2301): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2278): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 392 | 0.0026 | 2285 | c.128 others(2300): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2278): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 371 | 0.0027 | 2285 | c.*92 others(2296): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2278): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 371 | 0.0027 | 2285 | c.*92 others(2296): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2278): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 371 | 0.0027 | 2285 | c.*92 others(2296): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2278): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0262 | 1 | 364 | 0.0028 | 2285 | c.445 others(2300): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KMT2A_chr11_118431492_118531832 | 118441267 | T | TCTGTTTG others(2278): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0159 | 1 | 200 | 0.0050 | 2285 | c.432 others(2302): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120441 | G | GATGGAAA others(2278): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0029a0001c0002t0017g0077a0001c0002t0017g0078others(2): Show | 5 | 368 | 0.0136 | 2285 | c.353 others(2300): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2278): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0018 | a0018c0115 | a0018c0115t0001 | a0018c0115t0001g0081 | 1 | 186 | 0.0054 | 2285 | c.723 others(2302): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02738.hp1 |
a0003 | a0003c0009a0003c0032 | a0003c0009t0001a0003c0032t0001 | a0003c0009t0001g0004a0003c0032t0001g0006 | 2 | 294 | 0.0068 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 294 | 0.0034 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 294 | 0.0034 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0021 | a0021c0062 | a0021c0062t0008 | a0021c0062t0008g0212 | 1 | 294 | 0.0034 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2278): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(15): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(3): Show | a0001c0001t0001g0173a0001c0001t0001g0189a0001c0001t0001g0190others(15): Show | 18 | 294 | 0.0612 | 2285 | c.515 others(2302): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
MEIOSIN_chr19_45728439_45769541 | 45732413 | T | TAAGACGT others(2278): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 360 | 0.0028 | 2285 | c.-12 others(2296): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 1025 | chr19 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2278): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 361 | 0.0028 | 2285 | c.-48 others(2296): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2278): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 361 | 0.0028 | 2285 | c.-48 others(2296): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2279): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0012 | 1 | 371 | 0.0027 | 2286 | c.*92 others(2297): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2279): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244a0001c0001t0004g0245 | 2 | 322 | 0.0062 | 2286 | c.439 others(2303): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0268 | 1 | 294 | 0.0034 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 294 | 0.0034 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 294 | 0.0034 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0032 | 1 | 294 | 0.0034 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2279): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0009 | 1 | 294 | 0.0034 | 2286 | c.515 others(2303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2279): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0089 | 1 | 116 | 0.0086 | 2286 | c.522 others(2303): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2279): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0291 | 1 | 376 | 0.0027 | 2286 | c.101 others(2305): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2279): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 361 | 0.0028 | 2286 | c.-48 others(2297): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2280): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0368 | 1 | 460 | 0.0022 | 2287 | c.193 others(2304): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2280): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0354 | 1 | 371 | 0.0027 | 2287 | c.*92 others(2298): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2280): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 298 | 0.0034 | 2287 | c.126 others(2304): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2280): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0202a0001c0001t0008g0129 | 2 | 395 | 0.0051 | 2287 | c.*69 others(2298): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar |