Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDR2_chr1_162627464_162792405	162727965	A A	ATATATAT others(28): Show ATATATATATATAGATATAATCACACTATATATATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01109.hp1 others(10): Show HG00280.hp2 HG01070.hp2 HG01109.hp1 HG01346.hp2 HG02280.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026 a0001c0001t0046 a0001c0002t0038 a0003c0009t0002	a0001c0001t0002g0098 a0001c0001t0002g0178 a0001c0001t0004g0015 others(10): Show a0001c0001t0002g0098 a0001c0001t0002g0178 a0001c0001t0004g0015 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0012g0283 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0026g0294 a0001c0001t0046g0112 a0001c0002t0038g0099 a0003c0009t0002g0180	13	302	0.0431	35	c.82+ others(50): Show c.82+8865_82+8899dupATAGATATAATCACACTATATATATCTATA TATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX11_chr12_31068860_31109799	31099084	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0081 a0004c0007t0003g0081	1	418	0.0024	35	c.187 others(54): Show c.1875+1108_1875+1109insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX51_chr12_132131594_132149319	132133168	C C	CCCCCTCC others(28): Show CCCCCTCCCCCCCGCCTGACGGGGGCTCCTCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	35	c.61 others(46): Show c.6103_*6104insCGCAGGAGGAGCCCCCGTCAGGCGGGGGGGAGGG G	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		3425		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134743	A A	ACTCCTCC others(28): Show ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02132.hp2 HG02523.hp2 HG00621.hp2 HG02132.hp2 HG02523.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0027 a0001c0001 a0017c0027	a0001c0001t0001 a0017c0027t0001 a0001c0001t0001 a0017c0027t0001	a0001c0001t0001g0001 a0017c0027t0001g0067 a0001c0001t0001g0001 a0017c0027t0001g0067	3	334	0.0090	35	c.45 others(46): Show c.4528_*4529insGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGA G	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1850		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134861	T T	TCCCGAGT others(28): Show TCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	334	0.0030	35	c.44 others(46): Show c.4410_*4411insGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGG G	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1732		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135341	G G	GCTCCTCC others(28): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	334	0.0030	35	c.39 others(46): Show c.3930_*3931insTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGA G	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1252		chr12	TogoVar
DEAF1_chr11_639233_700222	647806	A A	AGTGCTGG others(28): Show AGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG02055.hp2 others(2): Show HG00735.hp1 HG01069.hp1 HG02055.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 a0001c0001 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0001t0001 a0001c0008t0001 a0001c0013t0001	a0001c0001t0001g0089 a0001c0001t0001g0307 a0001c0008t0001g0003 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0307 a0001c0008t0001g0003 a0001c0013t0001g0078	5	345	0.0145	35	c.159 others(54): Show c.1594-3187_1594-3153dupCGCCTGGGTCAAGTCCACCCACCTGC TCCCAGCAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEAF1_chr11_639233_700222	647849	G G	GAGCAGGT others(28): Show GAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18994.hp1 NA19056.hp1 NA18947.hp2 NA18994.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0116 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0001t0001g0116 a0001c0003t0001g0162 a0001c0003t0001g0163	3	345	0.0087	35	c.159 others(54): Show c.1594-3196_1594-3195insGCCAGCACCGCCTGGGTCAAGTCCAC CCACCTGCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690256	G G	GAGGGGAG others(28): Show GAGGGGAGGGCAGGAGAGGGGAGGGGAGGGCAGGGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19081.hp1 NA19009.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0185 a0001c0003t0001g0186	2	345	0.0058	35	c.387 others(52): Show c.387+1244_387+1245insGCCCTGCCCTCCCCTCCCCTCTCCTGCC CTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(28): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	345	0.0029	35	c.387 others(52): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTGCCCTCCCCTCCC CTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690341	C C	CAGGGGAG others(28): Show CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp2 HG01106.hp1 HG01515.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0039 a0003c0007t0001g0040 a0003c0007t0001g0039 a0003c0007t0001g0040	2	345	0.0058	35	c.387 others(52): Show c.387+1159_387+1160insCCCCTCCCCTCCCCTGCCCTCCCCTGCC CTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DECR2_chr16_396885_417482	410497	G G	GGGGCCTT others(28): Show GGGGCCTTCCCCTGACGGCCGCCCGCTCCCTGCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(118): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02895.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0005c0007	a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0005t0001g0092 a0001c0011t0001g0016 a0005c0007t0001g0002	121	367	0.3297	35	c.462 others(50): Show c.462+136_462+137insTCCCCTGACGGCCGCCCGCTCCCTGCCCTG GGCCT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFA4_chr8_6930820_6943306	6943231	G G	GGAGACAT others(28): Show GGAGACATGAATGGCTGAGCCTCTGTCAGGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG00738.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	486	0.0041	35	c.-50 others(46): Show c.-5019_-5018insACTCCTCCTGACAGAGGCTCAGCCATTCATGTCT C	DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding		4926		chr8	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0133 a0001c0001t0002g0012 a0001c0001t0002g0133	2	362	0.0055	35	c.48 others(46): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB128_chr20_182853_194711	183617	G G	GGAAAAGA others(28): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG02109.hp1 others(4): Show HG00733.hp2 HG01099.hp1 HG02109.hp1 HG02523.hp2 HG02615.hp2 NA18977.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	7	470	0.0149	35	c.42 others(46): Show c.4268_*4269insTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	DEFB128	ENSG00000185982.7	transcript	ENST00000334391.5	protein_coding		4235		chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001962	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	448	0.0022	35	c.-13 others(46): Show c.-1303_-1302insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1211		chr8	TogoVar
DENND6A_chr3_57620454_57698077	57644752	A A	AGGGGAGG others(28): Show AGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG02129.hp1 others(4): Show HG01071.hp2 HG01891.hp2 HG02129.hp1 NA18944.hp2 NA18992.hp1 NA19000.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0227 others(4): Show a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0005g0031	7	332	0.0211	35	c.103 others(52): Show c.1037+908_1037+909insACCCCTCCCCTCCCCTCCCCACCCCTCC CCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6A_chr3_57620454_57698077	57644779	G G	GGGAGGGG others(28): Show GGGAGGGGTGGGGAGGGGAGGGGTGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	332	0.0030	35	c.103 others(52): Show c.1037+881_1037+882insTCTCCCCTCCCCACCCCTCCCCTCCCCA CCCCTCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6A_chr3_57620454_57698077	57644799	G G	GGGTGGGG others(28): Show GGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp1 HG01257.hp1 others(32): Show HG00544.hp2 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA19007.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0002c0006t0004	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0024 others(32): Show a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0024 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0170 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0012g0156 a0001c0001t0016g0157 a0002c0006t0004g0138	35	332	0.1054	35	c.103 others(52): Show c.1037+861_1037+862insGCTCCCCTCCCCACCCCTCCCCTCCCCT CCCCACC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DEPDC1B_chr5_60591912_60705166	60699443	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	292	0.0034	35	c.48+ others(48): Show c.48+602_48+603insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0195 a0001c0002t0006g0195	1	204	0.0049	35	c.333 others(54): Show c.3330+3068_3330+3069insTATATATATATATATATATATATATA TATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42			chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119980453	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0030 a0002c0001t0003g0030	1	198	0.0051	35	c.604 others(54): Show c.604+15070_604+15104dupTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0180 a0003c0004t0002g0180	1	198	0.0051	35	c.791 others(50): Show c.791-185_791-184insAAATATATATATATATATATATATATATAT ATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120021058	C C	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01099.hp1 others(28): Show HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01496.hp2 HG02027.hp1 HG02135.hp1 HG02257.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18984.hp2 NA19011.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0003 a0003c0004 others(1): Show a0001c0002 a0001c0003 a0003c0004 a0006c0009	a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 others(6): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0003c0004t0015 a0006c0009t0004	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 others(28): Show a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0004g0068 a0001c0002t0004g0075 a0001c0002t0004g0077 a0001c0002t0004g0079 a0001c0002t0018g0082 a0001c0003t0001g0060 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0160 a0001c0003t0001g0197 a0001c0003t0003g0020 a0001c0003t0008g0042 a0001c0003t0008g0046 a0001c0003t0008g0047 a0001c0003t0008g0048 a0001c0003t0008g0049 a0001c0003t0008g0058 a0001c0003t0011g0083 a0001c0003t0011g0085 a0001c0003t0011g0086 a0003c0004t0015g0037 a0006c0009t0004g0080	31	198	0.1566	35	c.110 others(56): Show c.1101+11956_1101+11957insAAATAAAATAAAATAAAATAAAAT AAAATAAAATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERA_chr12_15906332_16042381	15936937	T T	TGTCCCGT others(28): Show TGTCCCGTCCCGTCCCGTCCCGTCCCGTCCCGTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	258	0.0039	35	c.32- others(52): Show c.32-19995_32-19994insCGTCCCGTCCCGTCCCGTCCCGTCCCGT CCCGTCC	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DERA_chr12_15906332_16042381	15936957	T T	TGTCCTGT others(28): Show TGTCCTGTCCTGTCCTGTCTTGTCCTGTCCCGTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	258	0.0039	35	c.32- others(52): Show c.32-19978_32-19977insTCCTGTCCTGTCCTGTCTTGTCCTGTCC CGTCCCG	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(28): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	308	0.0033	35	c.67 others(46): Show c.6761_*6762insGCCCCCCCACCCCCCCACCCCCCCACCCCCCCAC C	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DET1_chr15_88507480_88551681	88536770	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	402	0.0025	35	c.-10 others(52): Show c.-10-5056_-10-5055insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	1/4			chr15	TogoVar
DGAT1_chr8_144309584_144331852	144313775	G G	GCCTCCCC others(28): Show GCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	370	0.0027	35	c.27 others(46): Show c.2778_*2779insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG G	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		808		chr8	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGCGCGCGCAGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCGTGCGCGCGCGCGCTGCGCGCGCACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCTGTGCGCGCGCGCGCGCGCGCGCACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGCGCGGCGCTGCGCAGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCGTGCGCGCTGCGCAGCGCCGCGCACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGCGCGCGCGCAGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCGTGCGCGCGCTGCGCGCGCGCACACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGCGCGCGCAGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCATGCGCGCGCTGCGCGCGCACACACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGCGCAGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	35	c.-28 others(46): Show c.-2845_-2844insGCATGCGCGCGCGCTGCGCACACACACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGCGCGCCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	35	c.-28 others(46): Show c.-2845_-2844insGCATGCGCGCGCGGCGCGCACACACACACACACA C	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14612154	C C	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02523.hp1 NA18993.hp2 HG01074.hp2 HG02523.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0119 a0001c0003t0001g0136 a0001c0003t0002g0116 a0001c0001t0002g0119 a0001c0003t0001g0136 a0001c0003t0002g0116	3	148	0.0203	35	c.135 others(54): Show c.1358+1185_1358+1186insAAAATAAAATAAAATAAAATAAAATA AAATAAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	16/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186326397	T T	TCAAAAAA others(28): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0233 a0001c0003t0044g0233	1	234	0.0043	35	c.-24 others(54): Show c.-248-5691_-248-5690insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 NA18963.hp2 HG00423.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0005 a0001c0018t0032 a0001c0001t0005 a0001c0018t0032	a0001c0001t0005g0221 a0001c0018t0032g0215 a0001c0001t0005g0221 a0001c0018t0032g0215	2	316	0.0063	35	c.623 others(46): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137605313	T T	TATAAAAT others(28): Show TATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0054 a0001c0008t0018g0054	1	94	0.0106	35	c.116 others(54): Show c.1167+3618_1167+3652dupTTTATTTTATTTTATTTTATTTTATT TTATTTTAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	10/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0056 a0001c0005t0002g0056	1	94	0.0106	35	c.993 others(52): Show c.993+1672_993+1673insAAATATATATATATATATATATATATAT ATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618152	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0041 a0001c0007t0041	a0001c0007t0041g0073 a0001c0007t0041g0073	1	94	0.0106	35	c.993 others(52): Show c.993+1671_993+1672insTATATATATATATATATATATATATATA TATATAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91182898	G G	GTTATTTT others(28): Show GTTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	216	0.0046	35	c.934 others(52): Show c.934+1536_934+1537insATTTTATTTTATTTTATTTTATTTTATT TTATTTT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(28): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02809.hp2 HG03139.hp1 HG02486.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0042 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0042	3	352	0.0085	35	c.-32 others(46): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA A	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHCR7_chr11_71429411_71453393	71449604	C C	CGGGGGGG others(28): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	410	0.0024	35	c.-14 others(46): Show c.-1447_-1446insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC C	DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding		1212		chr11	TogoVar
DHRS12_chr13_51762993_51809163	51775852	C C	CCTACATG others(28): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03139.hp2 others(2): Show HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134	5	420	0.0119	35	c.363 others(52): Show c.363+1207_363+1208insAATACATGTAGGAGAATACTGTAGAATA CATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2397946	A A	ACACACAC others(28): Show ACACACACATAGATACATATGCCAACAGGCTGATCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18971.hp1 NA18960.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0025 a0001c0001t0001g0044	2	50	0.0400	35	c.286 others(54): Show c.286+10764_286+10798dupAGATCAGCCTGTTGGCATATGTATCT ATGTGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX57_chr2_38792729_38880934	38853044	G G	GTTTTCTT others(28): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03139.hp2 others(2): Show HG02615.hp1 HG02809.hp2 HG03139.hp2 HG03209.hp1 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0133 a0001c0001t0002g0239 a0001c0001t0003g0134 others(2): Show a0001c0001t0002g0133 a0001c0001t0002g0239 a0001c0001t0003g0134 a0002c0002t0001g0048 a0002c0002t0001g0050	5	284	0.0176	35	c.203 others(54): Show c.2030+1009_2030+1010insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	9/23			chr2	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	147	0.0068	35	c.132 others(52): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0040 a0002c0004t0001g0040	1	208	0.0048	35	c.331 others(56): Show c.3319+12136_3319+12137insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar

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Search Results (Total: 4618 hits)