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
DPY19L3_chr19_32400770_32490890	32460844	C C	CTTGTTTT others(8): Show CTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG02602.hp2 others(11): Show HG00621.hp2 HG00738.hp1 HG02602.hp2 HG03239.hp1 HG03540.hp2 HG03942.hp1 NA18946.hp2 NA18957.hp2 NA18982.hp2 NA18988.hp2 NA18991.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 a0001c0003t0004	a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 others(11): Show a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0240 a0001c0001t0005g0215 a0001c0002t0006g0082 a0001c0002t0006g0096 a0001c0003t0004g0028 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0036 a0001c0003t0004g0037	14	384	0.0365	15	c.132 others(34): Show c.1322+2364_1322+2378dupTTTTGTTTTGTTTTG	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPYD_chr1_97072743_97926034	97169523	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02976.hp2 others(3): Show HG02717.hp2 HG02895.hp2 HG02976.hp2 HG03195.hp1 HG03579.hp2 NA19043.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0009 a0011	a0001c0001 a0002c0002 a0005c0006 others(3): Show a0001c0001 a0002c0002 a0005c0006 a0006c0005 a0009c0013 a0011c0009	a0001c0001t0003 a0002c0002t0006 a0005c0006t0001 others(3): Show a0001c0001t0003 a0002c0002t0006 a0005c0006t0001 a0006c0005t0002 a0009c0013t0004 a0011c0009t0001	a0001c0001t0003g0037 a0002c0002t0006g0006 a0005c0006t0001g0036 others(3): Show a0001c0001t0003g0037 a0002c0002t0006g0006 a0005c0006t0001g0036 a0006c0005t0002g0024 a0009c0013t0004g0020 a0011c0009t0001g0051	6	52	0.1154	15	c.262 others(36): Show c.2622+23531_2622+23545dupTAAAATAAAATAAAA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97237241	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0006 a0002c0002t0006g0006	1	52	0.0192	15	c.230 others(34): Show c.2300-2262_2300-2248dupTTTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97316513	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03710.hp2 HG02132.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0025 a0001c0001t0001g0033 a0001c0001t0003g0025	2	52	0.0385	15	c.205 others(36): Show c.2059-10231_2059-10217dupTTATTTTATTTTATT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97464238	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 NA19043.hp2 HG03098.hp1 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0003g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0003g0037	3	52	0.0577	15	c.174 others(36): Show c.1741-14030_1741-14016dupATTTTATTTTATTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	13/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97887469	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	52	0.0192	15	c.40- others(30): Show c.40-4110_40-4096dupTTTTTTTTTTTTTTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26524835	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0019 a0001c0002t0023g0019	1	316	0.0032	15	c.354 others(34): Show c.354+10157_354+10158insAAAAAAAAAAAAAGA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26549200	T T	TTAATAAT others(8): Show TTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01256.hp1 others(3): Show HG00741.hp2 HG01255.hp1 HG01256.hp1 HG01934.hp2 HG03209.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0050 a0001c0004t0002 a0001c0004t0007 others(1): Show a0001c0001t0050 a0001c0004t0002 a0001c0004t0007 a0001c0007t0006	a0001c0001t0050g0074 a0001c0004t0002g0061 a0001c0004t0007g0056 others(3): Show a0001c0001t0050g0074 a0001c0004t0002g0061 a0001c0004t0007g0056 a0001c0007t0006g0057 a0001c0007t0006g0059 a0001c0007t0006g0060	6	316	0.0190	15	c.355 others(34): Show c.355-32755_355-32741dupAATAATAATAATAAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556144	G G	GTATATAT others(8): Show GTATATATATAGTATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02818.hp2 others(7): Show HG01074.hp1 HG02055.hp1 HG02818.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0043 a0001c0008t0005	a0001c0001t0005g0078 a0001c0001t0007g0158 a0001c0001t0007g0159 others(7): Show a0001c0001t0005g0078 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0008g0305 a0001c0001t0010g0306 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0043g0011 a0001c0008t0005g0088	10	316	0.0317	15	c.355 others(34): Show c.355-25819_355-25818insTATAGTATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556150	A A	ATAGTATA others(8): Show ATAGTATATATATACT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02074.hp1 HG03239.hp2 others(5): Show HG00609.hp1 HG02074.hp1 HG03239.hp2 NA18950.hp2 NA18971.hp1 NA18978.hp1 NA18993.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0026 a0001c0002t0001 a0001c0001t0004 a0001c0001t0026 a0001c0002t0001	a0001c0001t0004g0292 a0001c0001t0026g0274 a0001c0002t0001g0265 others(5): Show a0001c0001t0004g0292 a0001c0001t0026g0274 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0290	8	316	0.0253	15	c.355 others(34): Show c.355-25819_355-25818insTAGTATATATATACT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556365	G G	GTATATAT others(8): Show GTATATATATATAGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(8): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG01256.hp1 HG01515.hp1 HG01934.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0016	a0001c0001t0017 a0001c0001t0050 a0001c0004t0002 others(4): Show a0001c0001t0017 a0001c0001t0050 a0001c0004t0002 a0001c0004t0007 a0001c0007t0006 a0001c0007t0041 a0001c0016t0018	a0001c0001t0017g0070 a0001c0001t0050g0074 a0001c0004t0002g0061 others(8): Show a0001c0001t0017g0070 a0001c0001t0050g0074 a0001c0004t0002g0061 a0001c0004t0007g0055 a0001c0004t0007g0056 a0001c0004t0007g0063 a0001c0007t0006g0057 a0001c0007t0006g0059 a0001c0007t0006g0060 a0001c0007t0041g0058 a0001c0016t0018g0065	11	316	0.0348	15	c.355 others(34): Show c.355-25599_355-25585dupTATATATAGTATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL3_chr5_147385808_147515068	147494880	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02572.hp1 HG02683.hp1 others(1): Show HG01175.hp1 HG02572.hp1 HG02683.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0002g0282	4	298	0.0134	15	c.381 others(34): Show c.381+14583_381+14597dupATTATTATTATTATT	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding	1/13			chr5	TogoVar
DPYSL4_chr10_132181948_132210759	132186842	T T	TGGGCGGG others(8): Show TGGGCGGGCCCTATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	418	0.0024	15	c.-22 others(24): Show c.-222_-221insGGGCGGGCCCTATCG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		105		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(8): Show GGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03942.hp2 HG01123.hp1 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0004t0011 a0001c0003t0005 a0001c0004t0011	a0001c0003t0005g0210 a0001c0004t0011g0005 a0001c0003t0005g0210 a0001c0004t0011g0005	2	418	0.0048	15	c.10 others(26): Show c.1052_*1053insGCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00735.hp2 others(24): Show HG00140.hp2 HG00438.hp1 HG00735.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02109.hp2 HG02300.hp1 HG02486.hp2 HG02647.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03834.hp2 NA18955.hp1 NA18961.hp1 NA18979.hp2 NA19030.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0037 a0001c0002t0002 a0001c0002t0004 others(9): Show a0001c0001t0037 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0018 a0001c0002t0019 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0006t0004 a0002c0003t0006	a0001c0001t0037g0053 a0001c0002t0002g0040 a0001c0002t0002g0041 others(24): Show a0001c0001t0037g0053 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0146 a0001c0002t0002g0162 a0001c0002t0002g0217 a0001c0002t0004g0095 a0001c0002t0004g0230 a0001c0002t0006g0084 a0001c0002t0018g0150 a0001c0002t0019g0160 a0001c0002t0026g0144 a0001c0002t0028g0046 a0001c0002t0029g0137 a0001c0002t0031g0073 a0001c0006t0004g0161 a0002c0003t0006g0092 a0002c0003t0006g0093	27	232	0.1164	15	c.947 others(32): Show c.947+2213_947+2227dupAAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104461291	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01123.hp1 others(14): Show HG01070.hp2 HG01106.hp2 HG01123.hp1 HG01256.hp1 HG02145.hp1 HG02559.hp2 HG02602.hp2 HG03831.hp2 NA18953.hp1 NA18955.hp1 NA19004.hp1 NA19060.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0007 a0001c0001 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0005t0001 a0003c0007t0001	a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0131 others(14): Show a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0004g0129 a0001c0001t0004g0130 a0002c0005t0001g0134 a0003c0007t0001g0253	17	380	0.0447	15	c.264 others(32): Show c.264+5351_264+5365dupTTATTTTATTTTATT	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	1/9			chr8	TogoVar
DRC1_chr2_26396920_26461711	26398037	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0223 a0010c0013t0001g0223	1	384	0.0026	15	c.-39 others(26): Show c.-3953_-3952insTTTTTTTTTTTTTTT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding		3882		chr2	TogoVar
DRC1_chr2_26396920_26461711	26414115	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 HG01891.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0004g0212 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0004g0212	3	384	0.0078	15	c.156 others(30): Show c.156-213_156-199dupATTATTATTATTATT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57705774	C C	CCATCCAT others(8): Show CCATCCATCCTCCCAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0291 a0004c0005t0001g0291	1	388	0.0026	15	c.858 others(30): Show c.858+742_858+756dupATCCATCCTCCCATC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD1_chr5_175435036_175449182	175435906	T T	TATATCAT others(8): Show TATATCATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	490	0.0020	15	c.58 others(26): Show c.5852_*5853insGCATATATATGATAT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		4129		chr5	TogoVar
DRD1_chr5_175435036_175449182	175446106	A A	AAAAAAAA others(8): Show AAAAAAAAACAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(52): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01168.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG02717.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG04228.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18976.hp2 NA18981.hp1 NA18985.hp2 NA18992.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp2 NA19063.hp2 NA19076.hp2 NA19081.hp1 NA19089.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0031 a0001c0001t0004 a0001c0001t0012 a0001c0001t0031	a0001c0001t0004g0003 a0001c0001t0012g0014 a0001c0001t0031g0038 a0001c0001t0004g0003 a0001c0001t0012g0014 a0001c0001t0031g0038	55	490	0.1122	15	c.-28 others(26): Show c.-2892_-2891insGTTTTTGTTTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1925		chr5	TogoVar
DRD1_chr5_175435036_175449182	175446106	A A	AACAAAAA others(8): Show AACAAAAAACAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19011.hp1 NA18747.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	490	0.0041	15	c.-28 others(26): Show c.-2892_-2891insGTTTTTGTTTTTTGT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1925		chr5	TogoVar
DRD2_chr11_113404605_113480398	113446021	C C	CTGGCCCA others(8): Show CTGGCCCAGTAAGTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	340	0.0029	15	c.-31 others(34): Show c.-31-21354_-31-21340dupAAACTTACTGGGCCA	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	418	0.0024	15	c.64+ others(30): Show c.64+2320_64+2321insATATATATATATATT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	418	0.0024	15	c.64+ others(30): Show c.64+2320_64+2321insATATATATATTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31397470	A A	ATATATAT others(8): Show ATATATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02523.hp1 NA18943.hp1 others(3): Show HG00597.hp1 HG02523.hp1 NA18943.hp1 NA18948.hp2 NA18957.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0036 a0001c0002t0001g0057 a0002c0005t0001g0268 others(3): Show a0001c0002t0001g0036 a0001c0002t0001g0057 a0002c0005t0001g0268 a0002c0005t0001g0269 a0002c0005t0001g0282 a0002c0005t0001g0283	6	322	0.0186	15	c.39 others(26): Show c.3961_*3962insCTATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3023		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31399412	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0016 a0002c0004t0004g0016	1	322	0.0031	15	c.20 others(26): Show c.2019_*2020insCACACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		1081		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(8): Show TATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	322	0.0031	15	c.342 others(32): Show c.3420-522_3420-521insGGCGCATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	378	0.0027	15	c.148 others(30): Show c.148+397_148+398insAAACAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp1 others(12): Show HG00642.hp1 HG00642.hp2 HG00735.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp1 NA18950.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0014 a0003c0021 a0004c0029 a0010c0035	a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0003c0014t0004 a0003c0021t0006 a0004c0029t0002 a0010c0035t0004	a0001c0001t0002g0141 a0001c0003t0002g0016 a0001c0003t0002g0119 others(10): Show a0001c0001t0002g0141 a0001c0003t0002g0016 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0150 a0002c0002t0001g0024 a0002c0002t0001g0162 a0002c0002t0001g0163 a0003c0014t0004g0140 a0003c0021t0006g0321 a0004c0029t0002g0164 a0010c0035t0004g0143	15	378	0.0397	15	c.148 others(30): Show c.148+383_148+397dupAAAAAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31006292	G G	GTATTATT others(8): Show GTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00639.hp1 others(38): Show HG00597.hp1 HG00621.hp2 HG00639.hp1 HG01175.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02080.hp2 HG02148.hp1 HG02280.hp1 HG02300.hp1 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03654.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19075.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0013	a0001c0001 a0002c0002 a0005c0009 others(2): Show a0001c0001 a0002c0002 a0005c0009 a0007c0017 a0013c0013	a0001c0001t0001 a0001c0001t0009 a0001c0001t0072 others(18): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0072 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0042 a0002c0002t0065 a0002c0002t0069 a0002c0002t0083 a0002c0002t0097 a0002c0002t0098 a0002c0002t0118 a0005c0009t0001 a0005c0009t0007 a0007c0017t0087 a0013c0013t0001	a0001c0001t0001g0033 a0001c0001t0001g0210 a0001c0001t0001g0225 others(38): Show a0001c0001t0001g0033 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0009g0194 a0001c0001t0072g0193 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0055 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0002g0037 a0002c0002t0002g0043 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0006g0068 a0002c0002t0007g0026 a0002c0002t0007g0027 a0002c0002t0007g0045 a0002c0002t0007g0258 a0002c0002t0008g0065 a0002c0002t0008g0075 a0002c0002t0009g0067 a0002c0002t0012g0038 a0002c0002t0042g0031 a0002c0002t0065g0165 a0002c0002t0069g0052 a0002c0002t0083g0022 a0002c0002t0097g0018 a0002c0002t0098g0327 a0002c0002t0118g0073 a0005c0009t0001g0104 a0005c0009t0001g0138 a0005c0009t0007g0103 a0007c0017t0087g0017 a0013c0013t0001g0024	41	392	0.1046	15	c.188 others(32): Show c.1888+600_1888+614dupATAATAATAATAATA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	12/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31027491	C C	CCTTCCTT others(8): Show CCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	392	0.0026	15	c.475 others(32): Show c.475-1577_475-1576insAAGGAAGGAAGGAAG	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	4/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31036798	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01256.hp2 others(25): Show HG00741.hp2 HG01175.hp2 HG01256.hp2 HG01928.hp2 HG01993.hp2 HG02486.hp2 HG03130.hp2 HG03490.hp1 HG03516.hp2 HG04184.hp2 HG04199.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18982.hp1 NA18998.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19067.hp1 NA19075.hp2 NA19081.hp1 NA19089.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027 a0001c0001t0034 a0001c0001t0043 a0001c0001t0048 a0001c0004t0003 a0001c0004t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0065 a0002c0003t0003 a0002c0003t0012 a0002c0003t0070	a0001c0001t0001g0033 a0001c0001t0002g0154 a0001c0001t0007g0155 others(24): Show a0001c0001t0001g0033 a0001c0001t0002g0154 a0001c0001t0007g0155 a0001c0001t0013g0153 a0001c0001t0013g0160 a0001c0001t0024g0152 a0001c0001t0027g0086 a0001c0001t0034g0169 a0001c0001t0043g0085 a0001c0001t0048g0151 a0001c0004t0003g0230 a0001c0004t0015g0223 a0002c0002t0001g0004 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0043 a0002c0002t0007g0045 a0002c0002t0012g0038 a0002c0002t0065g0165 a0002c0003t0003g0041 a0002c0003t0003g0047 a0002c0003t0012g0042 a0002c0003t0070g0023	28	392	0.0714	15	c.70- others(30): Show c.70-4523_70-4522insAAAAAAAAAAAAAAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117424677	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0174 a0001c0011t0002g0174	1	194	0.0052	15	c.36 others(26): Show c.3650_*3651insTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding		3094		chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117486215	A A	ATGGCGGA others(8): Show ATGGCGGATGGGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0119 a0002c0001t0003g0119	1	194	0.0052	15	c.236 others(34): Show c.2360-4068_2360-4054dupCTTTCCCATCCGCCA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117486270	G G	GGAAAGTG others(8): Show GGAAAGTGGCGGATGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0036 a0001c0024t0002g0036	1	194	0.0052	15	c.236 others(34): Show c.2360-4123_2360-4109dupACATCCGCCACTTTC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117515610	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0147 a0001c0016t0002g0147	1	194	0.0052	15	c.178 others(32): Show c.1783+842_1783+856dupAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117539606	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp2 HG02976.hp2 others(4): Show HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 NA18989.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0012 a0002c0001 a0002c0002 others(2): Show a0001c0012 a0002c0001 a0002c0002 a0002c0066 a0006c0065	a0001c0012t0003 a0002c0001t0001 a0002c0001t0002 others(4): Show a0001c0012t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0002t0003 a0002c0066t0002 a0006c0065t0001	a0001c0012t0003g0094 a0002c0001t0001g0126 a0002c0001t0002g0175 others(4): Show a0001c0012t0003g0094 a0002c0001t0001g0126 a0002c0001t0002g0175 a0002c0001t0003g0119 a0002c0002t0003g0194 a0002c0066t0002g0070 a0006c0065t0001g0109	7	194	0.0361	15	c.512 others(32): Show c.512-7099_512-7085dupTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117582992	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01099.hp1 others(21): Show HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01175.hp2 HG01361.hp1 HG01934.hp1 HG01993.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG04184.hp2 NA18522.hp1 NA18984.hp1 NA18994.hp2 NA19063.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0011 others(15): Show a0001c0005 a0001c0007 a0001c0011 a0001c0012 a0001c0016 a0001c0026 a0001c0029 a0001c0045 a0001c0050 a0001c0055 a0002c0001 a0002c0002 a0002c0003 a0002c0006 a0002c0010 a0002c0032 a0002c0033 a0002c0058	a0001c0005t0001 a0001c0007t0002 a0001c0011t0002 others(19): Show a0001c0005t0001 a0001c0007t0002 a0001c0011t0002 a0001c0011t0003 a0001c0012t0002 a0001c0016t0001 a0001c0016t0002 a0001c0026t0001 a0001c0029t0002 a0001c0045t0006 a0001c0050t0001 a0001c0055t0001 a0002c0001t0003 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0006t0004 a0002c0010t0001 a0002c0032t0001 a0002c0033t0003 a0002c0058t0004	a0001c0005t0001g0190 a0001c0007t0002g0140 a0001c0011t0002g0007 others(21): Show a0001c0005t0001g0190 a0001c0007t0002g0140 a0001c0011t0002g0007 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0016t0001g0044 a0001c0016t0002g0147 a0001c0026t0001g0003 a0001c0029t0002g0103 a0001c0045t0006g0152 a0001c0050t0001g0022 a0001c0055t0001g0105 a0002c0001t0003g0119 a0002c0002t0001g0047 a0002c0003t0001g0079 a0002c0003t0002g0163 a0002c0003t0004g0077 a0002c0006t0004g0041 a0002c0010t0001g0166 a0002c0032t0001g0033 a0002c0033t0003g0059 a0002c0058t0004g0091	24	194	0.1237	15	c.512 others(34): Show c.512-50485_512-50471dupATAATAATAATAATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117595089	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0096 a0001c0005t0001g0096	1	194	0.0052	15	c.512 others(34): Show c.512-62568_512-62567insTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117672102	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 NA19030.hp2 HG03130.hp2 HG03453.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0001c0025 a0002c0001 a0001c0017 a0001c0025 a0002c0001	a0001c0017t0003 a0001c0025t0003 a0002c0001t0001 a0001c0017t0003 a0001c0025t0003 a0002c0001t0001	a0001c0017t0003g0054 a0001c0025t0003g0192 a0002c0001t0001g0126 a0001c0017t0003g0054 a0001c0025t0003g0192 a0002c0001t0001g0126	3	194	0.0155	15	c.511 others(36): Show c.511+104674_511+104688dupTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117762868	G G	GTAATAAT others(8): Show GTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01243.hp1 others(12): Show HG00673.hp1 HG01099.hp2 HG01243.hp1 HG01361.hp2 HG01433.hp2 HG02486.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 NA18906.hp2 NA18960.hp1 NA18966.hp1 NA18994.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0013 a0001c0015 others(10): Show a0001c0008 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0021 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0019 a0002c0032 a0002c0058	a0001c0008t0001 a0001c0013t0003 a0001c0015t0001 others(11): Show a0001c0008t0001 a0001c0013t0003 a0001c0015t0001 a0001c0017t0004 a0001c0018t0002 a0001c0021t0003 a0002c0002t0002 a0002c0004t0003 a0002c0006t0002 a0002c0010t0001 a0002c0010t0002 a0002c0019t0001 a0002c0032t0003 a0002c0058t0004	a0001c0008t0001g0137 a0001c0013t0003g0055 a0001c0015t0001g0031 others(12): Show a0001c0008t0001g0137 a0001c0013t0003g0055 a0001c0015t0001g0031 a0001c0017t0004g0009 a0001c0018t0002g0087 a0001c0021t0003g0141 a0001c0021t0003g0145 a0002c0002t0002g0011 a0002c0004t0003g0002 a0002c0006t0002g0088 a0002c0010t0001g0166 a0002c0010t0002g0048 a0002c0019t0001g0120 a0002c0032t0003g0001 a0002c0058t0004g0091	15	194	0.0773	15	c.511 others(34): Show c.511+13908_511+13922dupTTATTATTATTATTA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780219	G G	GAGAAAGA others(8): Show GAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0015 a0002c0010t0007g0015	1	194	0.0052	15	c.364 others(30): Show c.364+273_364+274insTCTTTCTTTCTTTCT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116410764	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	366	0.0027	15	c.416 others(34): Show c.416+11100_416+11101insAAAAAAAAAAAAGAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421464	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp1 HG02717.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0008 a0004c0005t0012 a0001c0001t0008 a0004c0005t0012	a0001c0001t0008g0084 a0004c0005t0012g0324 a0001c0001t0008g0084 a0004c0005t0012g0324	2	366	0.0055	15	c.417 others(32): Show c.417-5110_417-5109insATATATATATATATA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5			chr6	TogoVar
DSG2_chr18_31493177_31554008	31508353	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	354	0.0028	15	c.46- others(30): Show c.46-9848_46-9834dupTATTTTATTTTATTT	DSG2	ENSG00000046604.14	transcript	ENST00000261590.13	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSN1_chr20_36746795_36778763	36751473	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG03710.hp1 others(3): Show HG02486.hp2 HG02622.hp1 HG03710.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0151 a0001c0001t0001g0229 a0001c0001t0004g0053 a0001c0002t0002g0004	6	332	0.0181	15	c.13 others(26): Show c.1314_*1315insAAAAAAAAAAAAAAA	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding		321		chr20	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19056.hp1 NA19030.hp2 NA19056.hp1	a0001 a0028 a0001 a0028	a0001c0044 a0028c0043 a0001c0044 a0028c0043	a0001c0044t0001 a0028c0043t0001 a0001c0044t0001 a0028c0043t0001	a0001c0044t0001g0045 a0028c0043t0001g0273 a0001c0044t0001g0045 a0028c0043t0001g0273	2	396	0.0051	15	c.171 others(32): Show c.171-1636_171-1635insCACACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSP_chr6_7536671_7591714	7554126	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18985.hp2 HG01361.hp1 NA18985.hp2	a0003 a0017 a0003 a0017	a0003c0009 a0017c0047 a0003c0009 a0017c0047	a0003c0009t0002 a0017c0047t0001 a0003c0009t0002 a0017c0047t0001	a0003c0009t0002g0169 a0017c0047t0001g0030 a0003c0009t0002g0169 a0017c0047t0001g0030	2	396	0.0051	15	c.171 others(32): Show c.171-1592_171-1591insACACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSTN_chr20_17565075_17614919	17574865	C C	CTTTTCTT others(8): Show CTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	348	0.0029	15	c.3+4 others(28): Show c.3+4658_3+4659insCTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar

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