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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
DPYSL5_chr2_26843132_26955351	26932196	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03492.hp2 NA18994.hp1 others(2): Show HG01433.hp1 HG03492.hp2 NA18994.hp1 NA19005.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0002t0002g0101 a0001c0002t0002g0135 a0001c0002t0002g0151 others(2): Show a0001c0002t0002g0101 a0001c0002t0002g0135 a0001c0002t0002g0151 a0001c0002t0004g0158 a0001c0002t0006g0084	5	232	0.0216	-16	c.714 others(31): Show c.714+515_714+530delGAAAGAAAGAAAAGAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRAM1_chr12_101872580_101928612	101874015	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03579.hp1 others(1): Show HG03209.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0031 a0001c0001t0003 a0001c0001t0017 a0001c0001t0031	a0001c0001t0003g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 others(1): Show a0001c0001t0003g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0031g0007	4	396	0.0101	-16	c.-37 others(27): Show c.-3774_-3759delTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		3564		chr12	TogoVar
DRAM1_chr12_101872580_101928612	101880278	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	396	0.0025	-16	c.131 others(33): Show c.131+2370_131+2385delTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101882107	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18964.hp2 NA18969.hp2 others(1): Show HG02735.hp1 NA18964.hp2 NA18969.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0322 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0004g0322 a0001c0001t0016g0321	4	396	0.0101	-16	c.131 others(33): Show c.131+4201_131+4216delTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM2_chr1_111112163_111145093	111120381	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18957.hp1 NA19054.hp2 others(1): Show HG01167.hp2 NA18957.hp1 NA19054.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0003g0075 a0001c0001t0003g0111 a0001c0001t0001g0042 a0001c0001t0003g0075 a0001c0001t0003g0111	4	440	0.0091	-16	c.517 others(31): Show c.517+119_517+134delTTTTTTTTTTTTTTTT	DRAM2	ENSG00000156171.15	transcript	ENST00000484310.6	protein_coding	7/9			chr1	TogoVar
DRAP1_chr11_65914426_65926563	65925551	CAATGCCC others(9): Show CAATGCCCATCAGATAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-16	c.41 others(27): Show c.4117_*4132delAATGCCCATCAGATAA	DRAP1	ENSG00000175550.8	transcript	ENST00000312515.7	protein_coding		3989		chr11	TogoVar
DRC1_chr2_26396920_26461711	26418638	TTTATATA others(9): Show TTTATATAATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01168.hp1 others(9): Show HG00733.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02922.hp1 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0001 a0008 a0011 others(2): Show a0001 a0008 a0011 a0012 a0013	a0001c0001 a0008c0011 a0011c0015 others(2): Show a0001c0001 a0008c0011 a0011c0015 a0012c0014 a0013c0017	a0001c0001t0001 a0008c0011t0001 a0008c0011t0005 others(3): Show a0001c0001t0001 a0008c0011t0001 a0008c0011t0005 a0011c0015t0001 a0012c0014t0001 a0013c0017t0005	a0001c0001t0001g0027 a0008c0011t0001g0323 a0008c0011t0001g0324 others(8): Show a0001c0001t0001g0027 a0008c0011t0001g0323 a0008c0011t0001g0324 a0008c0011t0001g0333 a0008c0011t0005g0310 a0011c0015t0001g0016 a0011c0015t0001g0357 a0012c0014t0001g0051 a0012c0014t0001g0311 a0012c0014t0001g0325 a0013c0017t0005g0309	12	384	0.0313	-16	c.244 others(33): Show c.244-2642_244-2627delATATATAAATTATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18003484	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	324	0.0031	-16	c.100 others(33): Show c.1000-862_1000-847delAAAAAAAAAAAAAAAA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18017171	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02559.hp1 HG02809.hp1 others(2): Show HG01070.hp2 HG02559.hp1 HG02809.hp1 HG02897.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0113 a0002c0002t0002g0114 others(2): Show a0002c0002t0002g0007 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0154	5	324	0.0154	-16	c.50 others(25): Show c.501_*516delAAAAAAAAAAAAAAAA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		283		chr17	TogoVar
DRC7_chr16_57689806_57736805	57705757	CCCATCCA others(9): Show CCCATCCATCCTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(53): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03927.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19090.hp2 NA19091.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0010 a0019 a0020 a0023 a0025 a0027	a0002c0002 a0003c0003 a0003c0034 others(8): Show a0002c0002 a0003c0003 a0003c0034 a0003c0035 a0005c0004 a0010c0011 a0019c0026 a0020c0027 a0023c0033 a0025c0031 a0027c0028	a0002c0002t0002 a0003c0003t0001 a0003c0003t0006 others(9): Show a0002c0002t0002 a0003c0003t0001 a0003c0003t0006 a0003c0034t0001 a0003c0035t0001 a0005c0004t0002 a0010c0011t0001 a0019c0026t0008 a0020c0027t0001 a0023c0033t0001 a0025c0031t0001 a0027c0028t0001	a0002c0002t0002g0118 a0003c0003t0001g0002 a0003c0003t0001g0009 others(43): Show a0002c0002t0002g0118 a0003c0003t0001g0002 a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0133 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0156 a0003c0003t0001g0191 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0267 a0003c0003t0001g0299 a0003c0003t0006g0321 a0003c0034t0001g0311 a0003c0035t0001g0237 a0005c0004t0002g0029 a0005c0004t0002g0292 a0010c0011t0001g0261 a0019c0026t0008g0117 a0020c0027t0001g0106 a0023c0033t0001g0235 a0025c0031t0001g0144 a0027c0028t0001g0236	56	388	0.1443	-16	c.858 others(31): Show c.858+756_858+771delCCATCCATCCTCCCAT	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57706071	GCCTCCCA others(9): Show GCCTCCCATCCATCCAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(70): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0013	a0001c0001 a0004c0005 a0004c0041 others(2): Show a0001c0001 a0004c0005 a0004c0041 a0008c0006 a0013c0037	a0001c0001t0001 a0001c0001t0009 a0004c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0004c0005t0001 a0004c0005t0003 a0004c0041t0001 a0008c0006t0001 a0013c0037t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0198 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0009g0273 a0004c0005t0001g0045 a0004c0005t0001g0070 a0004c0005t0001g0108 a0004c0005t0003g0078 a0004c0041t0001g0052 a0008c0006t0001g0016 a0008c0006t0001g0032 a0008c0006t0001g0076 a0008c0006t0001g0077 a0008c0006t0001g0202 a0008c0006t0001g0284 a0008c0006t0001g0300 a0008c0006t0001g0301 a0008c0006t0001g0302 a0013c0037t0001g0089	73	388	0.1881	-16	c.858 others(33): Show c.858+1058_858+1073delCCATCCATCCATCCTC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57723145	TTTCCTGG others(9): Show TTTCCTGGGCCACCCAG	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0131 a0005c0004t0002g0131	1	388	0.0026	-16	c.153 others(31): Show c.1537+16_1537+31delTTCCTGGGCCACCCAG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	12/18			chr16	TogoVar
DRC7_chr16_57689806_57736805	57729722	GTGAGTGG others(9): Show GTGAGTGGGTGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	388	0.0026	-16	c.239 others(35): Show c.2391+1145_2391+1160delGGTGGGTGGATGAGTG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD2_chr11_113404605_113480398	113452455	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19090.hp2 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0011 a0001c0002t0005 a0001c0003t0011	a0001c0002t0005g0059 a0001c0003t0011g0060 a0001c0002t0005g0059 a0001c0003t0011g0060	2	340	0.0059	-16	c.-32 others(35): Show c.-32+22605_-32+22620delGCACACACACACACAC	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD2_chr11_113404605_113480398	113476064	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG02280.hp1 others(1): Show HG00408.hp2 HG00735.hp2 HG02280.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0100 a0001c0001t0006g0015 a0001c0002t0003g0209 others(1): Show a0001c0001t0001g0100 a0001c0001t0006g0015 a0001c0002t0003g0209 a0001c0003t0002g0174	4	340	0.0118	-16	c.-10 others(27): Show c.-1036_-1021delGAAAGAAAGAAAGAAA	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding		667		chr11	TogoVar
DRD5_chr4_9776634_9789009	9778049	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(130): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0002c0003t0001 a0002c0004t0002 a0004c0009t0002 a0005c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(8): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0002t0006g0000 a0002c0003t0001g0000 a0002c0004t0002g0000 a0004c0009t0002g0000 a0005c0008t0001g0000	133	454	0.2930	-16	c.-39 others(27): Show c.-3980_-3965delTTCTTTCCTTCCTTCC	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		3584		chr4	TogoVar
DRG2_chr17_18082948_18112969	18086062	CAGGAGCA others(9): Show CAGGAGCAGCCTGGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0334 a0001c0009t0001g0334	1	418	0.0024	-16	c.-19 others(27): Show c.-1961_-1946delAGGAGCAGCCTGGGCA	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding		1885		chr17	TogoVar
DRICH1_chr22_23603452_23637321	23609638	GGGCCCAG others(9): Show GGGCCCAGAACCCTGCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG02055.hp2 others(21): Show HG01243.hp1 HG01346.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0012	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0006 a0007c0005 a0012c0013	a0001c0001t0001 a0001c0001t0005 a0002c0002t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0006 a0004c0004t0001 a0005c0006t0001 a0007c0005t0006 a0012c0013t0001	a0001c0001t0001g0162 a0001c0001t0001g0199 a0001c0001t0001g0200 others(20): Show a0001c0001t0001g0162 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0005g0044 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0156 a0001c0001t0005g0209 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0002c0002t0006g0059 a0002c0002t0006g0089 a0004c0004t0001g0207 a0005c0006t0001g0133 a0005c0006t0001g0135 a0005c0006t0001g0136 a0007c0005t0006g0092 a0012c0013t0001g0146	24	446	0.0538	-16	c.686 others(31): Show c.686-886_686-871delGGCAGGGTTCTGGGCC	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	11/11			chr22	TogoVar
DROSHA_chr5_31395494_31537093	31436741	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp1 HG02258.hp2 others(16): Show HG01358.hp2 HG02055.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 NA18522.hp1 NA18998.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0003 a0001c0002t0001 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0003 a0003c0006t0003	a0001c0001t0003g0185 a0001c0001t0003g0257 a0001c0002t0001g0198 others(16): Show a0001c0001t0003g0185 a0001c0001t0003g0257 a0001c0002t0001g0198 a0001c0002t0001g0222 a0001c0003t0003g0088 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0214 a0001c0003t0003g0239 a0001c0003t0003g0249 a0003c0006t0003g0101 a0003c0006t0003g0229 a0003c0006t0003g0230 a0003c0006t0003g0289 a0003c0006t0003g0290 a0003c0006t0003g0292 a0003c0006t0003g0293 a0003c0006t0003g0294	19	322	0.0590	-16	c.294 others(33): Show c.2942+482_2942+497delGTGTGTGTGTGTGTGT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31493937	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02818.hp2 others(8): Show HG02055.hp1 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp1 HG03831.hp1 HG04204.hp1 NA19000.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0001c0018 others(3): Show a0001c0001 a0001c0010 a0001c0018 a0002c0004 a0002c0005 a0004c0009	a0001c0001t0003 a0001c0010t0001 a0001c0018t0001 others(3): Show a0001c0001t0003 a0001c0010t0001 a0001c0018t0001 a0002c0004t0004 a0002c0005t0001 a0004c0009t0002	a0001c0001t0003g0257 a0001c0010t0001g0051 a0001c0010t0001g0052 others(8): Show a0001c0001t0003g0257 a0001c0010t0001g0051 a0001c0010t0001g0052 a0001c0010t0001g0096 a0001c0018t0001g0097 a0002c0004t0004g0016 a0002c0004t0004g0017 a0002c0005t0001g0271 a0004c0009t0002g0254 a0004c0009t0002g0255 a0004c0009t0002g0262	11	322	0.0342	-16	c.175 others(33): Show c.1756-660_1756-645delCACACACACACACACA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	12/35			chr5	TogoVar
DRP2_chrX_101214786_101269502	101265186	ATATATAT others(9): Show ATATATATATATCCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG02895.hp1 HG01891.hp1 HG02717.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0211 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0211	3	260	0.0115	-16	c.45 others(27): Show c.4566_*4581delTATATATATATCCATC	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding		685		chrX	TogoVar
DSC1_chr18_31124236_31167856	31125452	CTTTATTT others(9): Show CTTTATTTATTTATTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02559.hp2 others(1): Show HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0034 a0001c0013t0001g0302 a0001c0013t0001g0303 a0001c0013t0001g0034 a0001c0013t0001g0302 a0001c0013t0001g0303	4	378	0.0106	-16	c.50 others(27): Show c.5046_*5061delTAAATAAATAAATAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding		3783		chr18	TogoVar
DSC1_chr18_31124236_31167856	31137965	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0068 a0004c0010t0001g0068	1	378	0.0027	-16	c.166 others(35): Show c.1663+1767_1663+1782delCACACACACACACACA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	11/15			chr18	TogoVar
DSC2_chr18_31053840_31107421	31101515	GGCCCCGG others(9): Show GGCCCCGGCGCACTCCC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02922.hp2 HG02615.hp1 HG02809.hp1 HG02922.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0010 a0004c0005t0012 a0005c0006t0047 a0001c0001t0010 a0004c0005t0012 a0005c0006t0047	a0001c0001t0010g0043 a0004c0005t0012g0294 a0005c0006t0047g0293 a0001c0001t0010g0043 a0004c0005t0012g0294 a0005c0006t0047g0293	3	380	0.0079	-16	c.69+ others(29): Show c.69+372_69+387delGGGAGTGCGCCGGGGC	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
DSC2_chr18_31053840_31107421	31101548	GCCCCGGC others(9): Show GCCCCGGCGCACTCCGA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0042 a0002c0002t0037g0042	1	380	0.0026	-16	c.69+ others(29): Show c.69+339_69+354delTCGGAGTGCGCCGGGG	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
DSC2_chr18_31053840_31107421	31101564	ACCCCGGC others(9): Show ACCCCGGCGCACTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG02486.hp2 HG02630.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03486.hp1 NA18906.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0012 a0004c0005t0022 a0004c0005t0045 others(2): Show a0004c0005t0012 a0004c0005t0022 a0004c0005t0045 a0005c0006t0010 a0005c0006t0074	a0004c0005t0012g0040 a0004c0005t0022g0297 a0004c0005t0022g0299 others(3): Show a0004c0005t0012g0040 a0004c0005t0022g0297 a0004c0005t0022g0299 a0004c0005t0045g0298 a0005c0006t0010g0295 a0005c0006t0074g0296	7	380	0.0184	-16	c.69+ others(29): Show c.69+323_69+338delCGGGAGTGCGCCGGGG	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	30985992	GTGTCTGT others(9): Show GTGTCTGTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0112 a0001c0014t0112	a0001c0014t0112g0369 a0001c0014t0112g0369	1	392	0.0026	-16	c.81 others(27): Show c.8167_*8182delTACACACACACAGACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding		3372		chr18	TogoVar
DSC3_chr18_30984365_31047742	31032546	CTGTGTGT others(9): Show CTGTGTGTATGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0090 a0001c0001t0051g0091 a0001c0001t0051g0090 a0001c0001t0051g0091	2	392	0.0051	-16	c.70- others(29): Show c.70-286_70-271delCACACACATACACACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31032581	TGTGTGTG others(9): Show TGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp1 others(29): Show HG00423.hp1 HG00438.hp2 HG00609.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01257.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02280.hp2 HG02559.hp2 HG02698.hp2 HG03130.hp1 HG03654.hp2 HG03688.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18972.hp1 NA18980.hp1 NA18991.hp1 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19065.hp2 NA19070.hp2 NA19083.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0004c0008 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0033 a0001c0001t0046 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0010 a0001c0004t0015 a0001c0004t0016 a0001c0004t0053 a0001c0004t0089 a0002c0002t0001 a0004c0008t0033 a0004c0008t0111 a0011c0016t0068	a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0002g0354 others(27): Show a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0008g0359 a0001c0001t0008g0362 a0001c0001t0011g0015 a0001c0001t0012g0361 a0001c0001t0018g0148 a0001c0001t0019g0357 a0001c0001t0022g0355 a0001c0001t0033g0147 a0001c0001t0046g0353 a0001c0004t0003g0093 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0005g0106 a0001c0004t0006g0176 a0001c0004t0008g0342 a0001c0004t0010g0008 a0001c0004t0015g0224 a0001c0004t0016g0105 a0001c0004t0053g0149 a0001c0004t0089g0219 a0002c0002t0001g0074 a0004c0008t0033g0226 a0004c0008t0111g0229 a0011c0016t0068g0116	32	392	0.0816	-16	c.70- others(29): Show c.70-321_70-306delGCACACGCACACACAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31032587	TGTGCGTG others(9): Show TGTGCGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA19091.hp1 HG01891.hp2 HG03471.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0081 a0002c0002t0024 a0001c0001t0081 a0002c0002t0024	a0001c0001t0081g0344 a0002c0002t0024g0333 a0002c0002t0024g0334 a0001c0001t0081g0344 a0002c0002t0024g0333 a0002c0002t0024g0334	3	392	0.0077	-16	c.70- others(29): Show c.70-327_70-312delGCACACGCACACGCAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31046991	CCTCTAGT others(9): Show CCTCTAGTGTGAAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	392	0.0026	-16	c.-43 others(27): Show c.-4347_-4332delATTTTTCACACTAGAG	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding		4250		chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117442415	ATGTGCGT others(9): Show ATGTGCGTAAATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0053 a0001c0025t0004g0053	1	194	0.0052	-16	c.386 others(35): Show c.3862+1455_3862+1470delCATACATTTACGCACA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	21/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117484886	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02056.hp1 HG02135.hp2 others(5): Show HG01109.hp1 HG02056.hp1 HG02135.hp2 HG02886.hp2 NA18522.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0005 a0001c0008 a0002c0006 others(5): Show a0001c0005 a0001c0008 a0002c0006 a0002c0033 a0002c0034 a0002c0060 a0005c0031 a0006c0065	a0001c0005t0001 a0001c0008t0001 a0002c0006t0001 others(5): Show a0001c0005t0001 a0001c0008t0001 a0002c0006t0001 a0002c0033t0002 a0002c0034t0001 a0002c0060t0002 a0005c0031t0001 a0006c0065t0001	a0001c0005t0001g0084 a0001c0008t0001g0118 a0002c0006t0001g0156 others(5): Show a0001c0005t0001g0084 a0001c0008t0001g0118 a0002c0006t0001g0156 a0002c0033t0002g0104 a0002c0034t0001g0125 a0002c0060t0002g0193 a0005c0031t0001g0101 a0006c0065t0001g0109	8	194	0.0412	-16	c.236 others(35): Show c.2360-2740_2360-2725delACACACACACACACAC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117486911	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG00673.hp1 others(26): Show HG00558.hp1 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp1 HG01257.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02965.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA18966.hp2 NA18977.hp2 NA18979.hp2 NA18994.hp2 NA19011.hp2 NA19063.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0008 a0001c0011 a0001c0012 others(18): Show a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0027 a0001c0029 a0001c0036 a0001c0042 a0001c0043 a0001c0046 a0001c0050 a0002c0002 a0002c0004 a0002c0010 a0002c0032 a0002c0034 a0002c0067 a0003c0044 a0004c0068	a0001c0008t0001 a0001c0011t0002 a0001c0011t0003 others(22): Show a0001c0008t0001 a0001c0011t0002 a0001c0011t0003 a0001c0012t0001 a0001c0012t0002 a0001c0013t0001 a0001c0013t0003 a0001c0015t0002 a0001c0017t0001 a0001c0027t0001 a0001c0029t0002 a0001c0036t0003 a0001c0042t0003 a0001c0043t0003 a0001c0046t0001 a0001c0050t0001 a0002c0002t0004 a0002c0004t0001 a0002c0010t0001 a0002c0010t0002 a0002c0032t0001 a0002c0034t0001 a0002c0067t0001 a0003c0044t0002 a0004c0068t0001	a0001c0008t0001g0102 a0001c0008t0001g0137 a0001c0011t0002g0007 others(26): Show a0001c0008t0001g0102 a0001c0008t0001g0137 a0001c0011t0002g0007 a0001c0011t0002g0026 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0012t0001g0043 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0013t0001g0065 a0001c0013t0003g0181 a0001c0015t0002g0038 a0001c0017t0001g0142 a0001c0027t0001g0012 a0001c0029t0002g0103 a0001c0036t0003g0063 a0001c0042t0003g0127 a0001c0043t0003g0184 a0001c0046t0001g0131 a0001c0050t0001g0022 a0002c0002t0004g0004 a0002c0004t0001g0154 a0002c0010t0001g0166 a0002c0010t0002g0018 a0002c0032t0001g0033 a0002c0034t0001g0125 a0002c0067t0001g0108 a0003c0044t0002g0030 a0004c0068t0001g0146	29	194	0.1495	-16	c.236 others(35): Show c.2360-4765_2360-4750delAAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117512671	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00642.hp1 others(19): Show HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG02717.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA18989.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0016 a0001c0028 a0002c0001 others(9): Show a0001c0016 a0001c0028 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0033 a0002c0060 a0002c0064 a0002c0069 a0006c0065	a0001c0016t0001 a0001c0028t0001 a0002c0001t0001 others(15): Show a0001c0016t0001 a0001c0028t0001 a0002c0001t0001 a0002c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0010t0004 a0002c0033t0002 a0002c0033t0003 a0002c0060t0002 a0002c0064t0001 a0002c0069t0002 a0006c0065t0001	a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0028t0001g0067 others(19): Show a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0028t0001g0067 a0002c0001t0001g0072 a0002c0001t0002g0083 a0002c0002t0001g0047 a0002c0002t0004g0004 a0002c0002t0004g0086 a0002c0004t0001g0037 a0002c0004t0002g0005 a0002c0006t0001g0187 a0002c0006t0002g0088 a0002c0006t0004g0149 a0002c0006t0004g0150 a0002c0010t0004g0058 a0002c0010t0004g0116 a0002c0033t0002g0104 a0002c0033t0003g0059 a0002c0060t0002g0193 a0002c0064t0001g0165 a0002c0069t0002g0189 a0006c0065t0001g0109	22	194	0.1134	-16	c.178 others(35): Show c.1783+3780_1783+3795delATGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117531938	AGGAGGGA others(9): Show AGGAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0164 a0002c0006t0001g0164	1	194	0.0052	-16	c.658 others(31): Show c.658+422_658+437delCTCCCTCCCTCCCTCC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	4/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117639328	ATGGGAGG others(9): Show ATGGGAGGCTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0003 a0001c0030t0003	a0001c0030t0003g0183 a0001c0030t0003g0183	1	194	0.0052	-16	c.512 others(37): Show c.512-106822_512-106807delCCCACCCAGCCTCCCA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117665013	TGCCATGC others(9): Show TGCCATGCTTGTTGGTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG03471.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0025 a0002c0004 a0001c0011 a0001c0025 a0002c0004	a0001c0011t0002 a0001c0025t0003 a0002c0004t0003 a0001c0011t0002 a0001c0025t0003 a0002c0004t0003	a0001c0011t0002g0026 a0001c0025t0003g0192 a0002c0004t0003g0002 a0001c0011t0002g0026 a0001c0025t0003g0192 a0002c0004t0003g0002	3	194	0.0155	-16	c.511 others(37): Show c.511+111762_511+111777delTACCAACAAGCATGGC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCC1_chr8_119828976_119860894	119845051	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG03669.hp1 others(2): Show HG00738.hp1 HG01099.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0048 a0001c0001t0003g0160 a0001c0001t0003g0186 others(1): Show a0001c0001t0002g0048 a0001c0001t0003g0160 a0001c0001t0003g0186 a0001c0001t0003g0187	5	378	0.0132	-16	c.578 others(33): Show c.578-1320_578-1305delTAAATAAATAAATAAA	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	4/8			chr8	TogoVar
DSG1_chr18_31313160_31364246	31359670	TACTGGGA others(9): Show TACTGGGATGCATCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	302	0.0033	-16	c.43 others(27): Show c.4325_*4340delACTGGGATGCATCTCC	DSG1	ENSG00000134760.6	transcript	ENST00000257192.5	protein_coding		425		chr18	TogoVar
DSG2_chr18_31493177_31554008	31532907	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp1 HG03017.hp1 HG04115.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0011 a0002c0016t0010g0011	2	354	0.0057	-16	c.128 others(35): Show c.1280+1671_1280+1686delGTTTGTTTGTTTGTTT	DSG2	ENSG00000046604.14	transcript	ENST00000261590.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457577	CTTTCTTT others(9): Show CTTTCTTTCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18967.hp1 NA18989.hp2 others(2): Show HG00738.hp2 NA18967.hp1 NA18989.hp2 NA19066.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0116 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0004g0121	5	346	0.0145	-16	c.216 others(31): Show c.216+456_216+471delTCTTTCTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457581	CTTTCTTC others(9): Show CTTTCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01891.hp1 HG02004.hp2 others(6): Show HG00609.hp1 HG01891.hp1 HG02004.hp2 HG02040.hp1 HG02523.hp1 HG02523.hp2 NA18948.hp1 NA18952.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0051	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0003g0133 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0003g0133 a0001c0001t0004g0091 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0051g0196	9	346	0.0260	-16	c.216 others(31): Show c.216+460_216+475delTCTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457585	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 NA19002.hp2 HG02451.hp1 HG03486.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0053 a0002c0002t0006 a0001c0001t0013 a0001c0001t0053 a0002c0002t0006	a0001c0001t0013g0200 a0001c0001t0053g0195 a0002c0002t0006g0175 a0001c0001t0013g0200 a0001c0001t0053g0195 a0002c0002t0006g0175	3	346	0.0087	-16	c.216 others(31): Show c.216+504_216+519delCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSN1_chr20_36746795_36778763	36769902	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18982.hp1 NA18982.hp2 others(3): Show NA18954.hp2 NA18982.hp1 NA18982.hp2 NA18999.hp1 NA18999.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078	6	332	0.0181	-16	c.355 others(31): Show c.355+955_355+970delGTGTGTGTGTGTGTGT	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding	3/10			chr20	TogoVar
DSPP_chr4_87603529_87621873	87605101	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	450	0.0022	-16	c.-35 others(27): Show c.-3547_-3532delTTTTTTTTTTTTTTTT	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding		3427		chr4	TogoVar
DSP_chr6_7536671_7591714	7558507	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02129.hp1 HG02155.hp1 others(4): Show HG01074.hp2 HG02129.hp1 HG02155.hp1 NA18942.hp1 NA18949.hp1 NA18961.hp1 NA18983.hp2	a0001 a0029 a0036 a0001 a0029 a0036	a0001c0001 a0001c0072 a0029c0075 others(1): Show a0001c0001 a0001c0072 a0029c0075 a0036c0077	a0001c0001t0001 a0001c0072t0001 a0029c0075t0001 others(1): Show a0001c0001t0001 a0001c0072t0001 a0029c0075t0001 a0036c0077t0001	a0001c0001t0001g0054 a0001c0001t0001g0128 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0072t0001g0133 a0029c0075t0001g0127 a0036c0077t0001g0132	7	396	0.0177	-16	c.422 others(31): Show c.422+253_422+268delTTTTTTTTTTTTTTTT	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSTYK_chr1_205137505_205216702	205176476	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01192.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0005 a0001c0007t0012g0123 a0001c0007t0012g0124 a0001c0007t0012g0005 a0001c0007t0012g0123 a0001c0007t0012g0124	4	348	0.0115	-16	c.655 others(33): Show c.655-6660_655-6645delTTTTTTTTTTTTTTTT	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	2/12			chr1	TogoVar
DSTYK_chr1_205137505_205216702	205199988	ATAGGCTG others(9): Show ATAGGCTGATTTTCCTC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0329 a0002c0003t0020g0329	1	348	0.0029	-16	c.265 others(35): Show c.265+11267_265+11282delGAGGAAAATCAGCCTA	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12			chr1	TogoVar
DSTYK_chr1_205137505_205216702	205207755	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 NA19068.hp2 others(1): Show HG02965.hp2 HG02970.hp2 NA19068.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005	a0001c0001t0008g0212 a0001c0001t0008g0286 a0001c0002t0001g0211 others(1): Show a0001c0001t0008g0212 a0001c0001t0008g0286 a0001c0002t0001g0211 a0001c0002t0005g0281	4	348	0.0115	-16	c.265 others(33): Show c.265+3500_265+3515delTTTTTTTTTTTTTTTT	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12			chr1	TogoVar

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