Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
DPPA4_chr3_109321144_109342546	109330312	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18982.hp1 NA19002.hp2 NA18965.hp2 NA18982.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0103 a0002c0003t0002g0124 a0002c0003t0002g0134 a0001c0001t0001g0103 a0002c0003t0002g0124 a0002c0003t0002g0134	3	416	0.0072	-20	c.679 others(35): Show c.679+192_679+211delCTTTTTTTTTTTTTTTTTTT	DPPA4	ENSG00000121570.13	transcript	ENST00000335658.7	protein_coding	5/6			chr3	TogoVar
DPPA5_chr6_73348063_73359276	73352500	GTAATCCC others(13): Show GTAATCCCAGCTACTCACCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-20	c.80 others(29): Show c.800_*819delTGGGTGAGTAGCTGGGATTA	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		562		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73355131	TCACACAC others(13): Show TCACACACACACGCACGCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18945.hp2 NA18955.hp1 others(8): Show HG02083.hp1 NA18945.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18981.hp2 NA19000.hp2 NA19005.hp1 NA19054.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	428	0.0257	-20	c.-92 others(29): Show c.-926_-907delTGTGCGTGCGTGTGTGTGTG	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		856		chr6	TogoVar
DPY19L1_chr7_34923881_35042485	35038121	TTTACTCC others(13): Show TTTACTCCCCGCAGTGTGGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	328	0.0031	-20	c.-74 others(29): Show c.-747_-728delGACCACACTGCGGGGAGTAA	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		637		chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35038153	AGCGCAGC others(13): Show AGCGCAGCCCCTCACTCACCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	328	0.0031	-20	c.-77 others(29): Show c.-779_-760delCGGTGAGTGAGGGGCTGCGC	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		669		chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35040795	TAAAATCA others(13): Show TAAAATCATAGAAGAAAACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0235 a0002c0002t0003g0235	1	328	0.0031	-20	c.-34 others(31): Show c.-3421_-3402delTTGTTTTCTTCTATGATTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		3311		chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63556416	ATGTATAT others(13): Show ATGTATATACATATATACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02559.hp1 others(3): Show HG01361.hp2 HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG03041.hp2	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0009 a0007c0012 a0002c0002 a0005c0009 a0007c0012	a0002c0002t0003 a0005c0009t0003 a0007c0012t0003 a0002c0002t0003 a0005c0009t0003 a0007c0012t0003	a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0172 others(3): Show a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0172 a0005c0009t0003g0171 a0005c0009t0003g0174 a0007c0012t0003g0168	6	362	0.0166	-20	c.40 others(31): Show c.4076_*4095delCGTGTATATATGTATATACA	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2496		chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63665033	TATAAACA others(13): Show TATAAACACTTTTGTAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02109.hp2 others(19): Show HG01243.hp1 HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA19030.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0010	a0002c0002 a0002c0003 a0003c0004 others(3): Show a0002c0002 a0002c0003 a0003c0004 a0004c0008 a0006c0011 a0010c0016	a0002c0002t0003 a0002c0003t0001 a0003c0004t0003 others(4): Show a0002c0002t0003 a0002c0003t0001 a0003c0004t0003 a0003c0004t0007 a0004c0008t0008 a0006c0011t0003 a0010c0016t0003	a0002c0002t0003g0157 a0002c0003t0001g0091 a0002c0003t0001g0101 others(19): Show a0002c0002t0003g0157 a0002c0003t0001g0091 a0002c0003t0001g0101 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0156 a0003c0004t0007g0092 a0004c0008t0008g0193 a0004c0008t0008g0194 a0006c0011t0003g0102 a0010c0016t0003g0348	22	362	0.0608	-20	c.362 others(35): Show c.362+782_362+801delTATTTTACAAAAGTGTTTAT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	2/21			chr12	TogoVar
DPY19L3_chr19_32400770_32490890	32447720	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02273.hp2 NA18964.hp2 HG02145.hp2 HG02273.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0006 a0001c0001t0007 a0001c0002t0006	a0001c0001t0007g0275 a0001c0002t0006g0089 a0001c0002t0006g0094 a0001c0001t0007g0275 a0001c0002t0006g0089 a0001c0002t0006g0094	3	384	0.0078	-20	c.856 others(37): Show c.856-5386_856-5367delAGATAGATAGATAGATAGAT	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0022 a0006c0005t0002g0022	1	52	0.0192	-20	c.244 others(39): Show c.2443-2406_2443-2387delTATATATATATATATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97206638	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02165.hp2 HG03225.hp2 others(3): Show HG00735.hp1 HG02165.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005 a0010c0011 a0011c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0005 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0005 a0006c0005t0001 a0010c0011t0004 a0011c0009t0001	a0001c0001t0001g0045 a0002c0002t0001g0019 a0003c0003t0005g0013 others(3): Show a0001c0001t0001g0045 a0002c0002t0001g0019 a0003c0003t0005g0013 a0006c0005t0001g0001 a0010c0011t0004g0049 a0011c0009t0001g0051	6	52	0.1154	-20	c.244 others(41): Show c.2443-13410_2443-13391delTATATATATATATATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97224999	GTCTGTCT others(13): Show GTCTGTCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	52	0.0192	-20	c.244 others(39): Show c.2442+9833_2442+9852delTAGATAGATAGATAGACAGA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97242122	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0048 a0002c0002t0003g0018 a0002c0002t0003g0048	2	52	0.0385	-20	c.230 others(39): Show c.2300-7148_2300-7129delTATATATATATATATATACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26622456	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0261 a0001c0007t0001g0261	1	316	0.0032	-20	c.629 others(37): Show c.629-1669_629-1650delATATGTGTGTGTGTGTGTGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132187349	CGGCCCTG others(13): Show CGGCCCTGCCGGGCCCTGCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01109.hp1 others(41): Show HG00642.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG04228.hp2 NA18978.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013 a0001c0015 a0002c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0024 a0001c0001t0036 a0001c0003t0004 a0001c0003t0005 a0001c0003t0025 a0001c0012t0015 a0001c0013t0008 a0001c0015t0027 a0002c0005t0009 a0002c0005t0022	a0001c0001t0002g0039 a0001c0001t0007g0038 a0001c0001t0007g0070 others(28): Show a0001c0001t0002g0039 a0001c0001t0007g0038 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0074 a0001c0001t0007g0081 a0001c0001t0007g0099 a0001c0001t0009g0010 a0001c0001t0013g0018 a0001c0001t0024g0075 a0001c0001t0036g0076 a0001c0003t0004g0037 a0001c0003t0004g0061 a0001c0003t0005g0060 a0001c0003t0005g0201 a0001c0003t0005g0202 a0001c0003t0005g0203 a0001c0003t0025g0200 a0001c0012t0015g0072 a0001c0013t0008g0086 a0001c0015t0027g0073 a0002c0005t0009g0010 a0002c0005t0009g0077 a0002c0005t0009g0078 a0002c0005t0009g0079 a0002c0005t0009g0082 a0002c0005t0009g0083 a0002c0005t0009g0084 a0002c0005t0009g0085 a0002c0005t0009g0087 a0002c0005t0022g0080	44	418	0.1053	-20	c.39+ others(33): Show c.39+257_39+276delGGGCCCTGCCGGGCCCTGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132187364	CTGCCGGG others(13): Show CTGCCGGGCCCTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01109.hp2 others(20): Show HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01884.hp1 HG02451.hp2 HG02647.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0020	a0001c0001t0031 a0001c0002t0008 a0001c0002t0026 others(4): Show a0001c0001t0031 a0001c0002t0008 a0001c0002t0026 a0001c0002t0030 a0001c0003t0005 a0001c0009t0010 a0001c0020t0010	a0001c0001t0031g0197 a0001c0002t0008g0026 a0001c0002t0008g0036 others(11): Show a0001c0001t0031g0197 a0001c0002t0008g0026 a0001c0002t0008g0036 a0001c0002t0008g0190 a0001c0002t0008g0193 a0001c0002t0008g0194 a0001c0002t0008g0195 a0001c0002t0026g0192 a0001c0002t0030g0191 a0001c0003t0005g0196 a0001c0009t0010g0013 a0001c0009t0010g0188 a0001c0009t0010g0189 a0001c0020t0010g0013	23	418	0.0550	-20	c.39+ others(33): Show c.39+267_39+286delGGGCCCTGCCCGGCCTTGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26888209	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp2 others(1): Show HG02895.hp1 HG02897.hp1 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0166 a0001c0001t0003g0168 others(1): Show a0001c0001t0003g0088 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0171	4	232	0.0172	-20	c.-4- others(37): Show c.-4-10249_-4-10230delTTCTTTCTTTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932192	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	232	0.0043	-20	c.714 others(35): Show c.714+511_714+530delGAAAGAAAGAAAGAAAAGAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104381865	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(14): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02074.hp1 HG02145.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp1 NA18951.hp2 NA18984.hp2 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0118 others(13): Show a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0002g0018 a0001c0002t0001g0188 a0001c0002t0001g0213 a0001c0002t0001g0245 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033	17	380	0.0447	-20	c.144 others(37): Show c.1444-571_1444-552delATGTGTGTGTGTGTGTGTGT	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101904426	GGTTTTTT others(13): Show GGTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	396	0.0025	-20	c.342 others(37): Show c.342+2994_342+3013delGTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAM2_chr1_111112163_111145093	111120381	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18963.hp1 HG02647.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0102 a0001c0001t0012g0098 a0001c0001t0002g0102 a0001c0001t0012g0098	2	440	0.0046	-20	c.517 others(35): Show c.517+115_517+134delTTTTTTTTTTTTTTTTTTTT	DRAM2	ENSG00000156171.15	transcript	ENST00000484310.6	protein_coding	7/9			chr1	TogoVar
DRC3_chr17_17967862_18021889	18003484	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	324	0.0031	-20	c.100 others(37): Show c.1000-866_1000-847delAAAAAAAAAAAAAAAAAAAA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRD2_chr11_113404605_113480398	113452459	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp1 HG02055.hp1 others(26): Show HG01496.hp2 HG01981.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02615.hp2 HG03579.hp1 NA18942.hp2 NA18945.hp2 NA18957.hp2 NA18959.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18984.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19083.hp1 NA19087.hp2 NA19089.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0004 a0001c0001t0019 a0001c0002t0005 others(3): Show a0001c0001t0004 a0001c0001t0019 a0001c0002t0005 a0001c0002t0017 a0001c0003t0004 a0001c0007t0004	a0001c0001t0004g0003 a0001c0001t0004g0026 a0001c0001t0004g0027 others(22): Show a0001c0001t0004g0003 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0045 a0001c0001t0004g0069 a0001c0001t0019g0031 a0001c0002t0005g0001 a0001c0002t0005g0024 a0001c0002t0005g0034 a0001c0002t0005g0036 a0001c0002t0005g0037 a0001c0002t0005g0038 a0001c0002t0005g0039 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0084 a0001c0002t0017g0040 a0001c0003t0004g0070 a0001c0007t0004g0002	29	340	0.0853	-20	c.-32 others(39): Show c.-32+22597_-32+22616delGCGCGCGCGCACACACACAC	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD2_chr11_113404605_113480398	113476064	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG02155.hp1 others(4): Show HG01123.hp2 HG01433.hp1 HG02155.hp1 NA18944.hp1 NA18989.hp1 NA19079.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0003t0002 a0001c0001t0001 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0262 others(4): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0262 a0001c0002t0003g0107 a0001c0002t0003g0229 a0001c0002t0003g0237 a0001c0003t0002g0169	7	340	0.0206	-20	c.-10 others(31): Show c.-1040_-1021delGAAAGAAAGAAAGAAAGAAA	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding		667		chr11	TogoVar
DRD5_chr4_9776634_9789009	9778045	TTTCTTTC others(13): Show TTTCTTTCTTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	454	0.0022	-20	c.-39 others(31): Show c.-3984_-3965delTTCTTTCTTTCCTTCCTTCC	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		3588		chr4	TogoVar
DRD5_chr4_9776634_9789009	9778049	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00639.hp2 others(49): Show HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02258.hp1 HG02300.hp2 HG02738.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp2 HG04204.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18964.hp1 NA18967.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19011.hp2 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0011t0001g0000	52	454	0.1145	-20	c.-39 others(31): Show c.-3980_-3961delTTCTTTCCTTCCTTCCTTCC	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		3584		chr4	TogoVar
DRD5_chr4_9776634_9789009	9787983	ATATCCTA others(13): Show ATATCCTATTATTTCTCAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	454	0.0022	-20	c.45 others(31): Show c.4521_*4540delTATCCTATTATTTCTCAAAC	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		3975		chr4	TogoVar
DRG2_chr17_18082948_18112969	18090368	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18987.hp2 NA19065.hp1 HG03831.hp1 NA18987.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0299 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0299	3	418	0.0072	-20	c.64+ others(35): Show c.64+2301_64+2320delATATATATATATATATATAT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31436741	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03209.hp1 HG00280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0002 a0001c0001t0002 a0001c0014t0002	a0001c0001t0002g0120 a0001c0014t0002g0227 a0001c0001t0002g0120 a0001c0014t0002g0227	2	322	0.0062	-20	c.294 others(37): Show c.2942+478_2942+497delGTGTGTGTGTGTGTGTGTGT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	31032577	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03486.hp2 NA19007.hp1 HG02015.hp1 HG03486.hp2 NA19007.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0029 a0004c0008t0017 a0001c0001t0002 a0001c0001t0029 a0004c0008t0017	a0001c0001t0002g0364 a0001c0001t0029g0363 a0004c0008t0017g0227 a0001c0001t0002g0364 a0001c0001t0029g0363 a0004c0008t0017g0227	3	392	0.0077	-20	c.70- others(33): Show c.70-321_70-302delGCACACGCACACACACACAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31032589	TGCGTGTG others(13): Show TGCGTGTGCGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp2 NA20300.hp2 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0006 a0009c0020 a0002c0006 a0009c0020	a0002c0006t0014 a0009c0020t0117 a0002c0006t0014 a0009c0020t0117	a0002c0006t0014g0014 a0002c0006t0014g0329 a0002c0006t0014g0330 others(2): Show a0002c0006t0014g0014 a0002c0006t0014g0329 a0002c0006t0014g0330 a0002c0006t0014g0331 a0009c0020t0117g0328	6	392	0.0153	-20	c.70- others(33): Show c.70-333_70-314delGCACACGCACACGCACACGC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117477349	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0041 a0002c0006t0004g0041	1	194	0.0052	-20	c.278 others(39): Show c.2785+3074_2785+3093delACACACACACACACACACAC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117484886	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02109.hp1 others(15): Show HG01081.hp2 HG01884.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0012 a0001c0013 others(7): Show a0001c0009 a0001c0012 a0001c0013 a0001c0017 a0001c0045 a0001c0047 a0002c0001 a0002c0002 a0002c0003 a0002c0006	a0001c0009t0001 a0001c0009t0002 a0001c0012t0003 others(11): Show a0001c0009t0001 a0001c0009t0002 a0001c0012t0003 a0001c0013t0004 a0001c0017t0004 a0001c0045t0006 a0001c0047t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0002t0003 a0002c0003t0002 a0002c0006t0002 a0002c0006t0003	a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 others(15): Show a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 a0001c0009t0002g0160 a0001c0009t0002g0180 a0001c0012t0003g0094 a0001c0012t0003g0095 a0001c0013t0004g0177 a0001c0017t0004g0009 a0001c0045t0006g0152 a0001c0047t0002g0057 a0002c0001t0001g0126 a0002c0001t0002g0115 a0002c0001t0004g0139 a0002c0002t0003g0194 a0002c0003t0002g0191 a0002c0006t0002g0093 a0002c0006t0003g0052	18	194	0.0928	-20	c.236 others(39): Show c.2360-2744_2360-2725delACACACACACACACACACAC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117550420	CCCCAGTG others(13): Show CCCCAGTGTCTGGCCTGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01109.hp1 others(15): Show HG00673.hp1 HG01070.hp2 HG01109.hp1 HG02083.hp1 HG02109.hp1 HG02293.hp2 HG02451.hp1 HG02735.hp1 HG03098.hp1 HG03225.hp2 HG03516.hp2 HG04115.hp2 NA18966.hp2 NA18979.hp2 NA18994.hp2 NA19063.hp2 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0009 a0001c0011 others(9): Show a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0023 a0001c0028 a0001c0029 a0001c0030 a0002c0004 a0003c0041 a0003c0044	a0001c0008t0001 a0001c0008t0004 a0001c0009t0002 others(10): Show a0001c0008t0001 a0001c0008t0004 a0001c0009t0002 a0001c0011t0004 a0001c0012t0002 a0001c0014t0004 a0001c0023t0001 a0001c0028t0001 a0001c0029t0002 a0001c0030t0003 a0002c0004t0002 a0003c0041t0001 a0003c0044t0002	a0001c0008t0001g0102 a0001c0008t0001g0118 a0001c0008t0001g0137 others(15): Show a0001c0008t0001g0102 a0001c0008t0001g0118 a0001c0008t0001g0137 a0001c0008t0004g0100 a0001c0009t0002g0019 a0001c0011t0004g0064 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0014t0004g0090 a0001c0014t0004g0143 a0001c0023t0001g0062 a0001c0028t0001g0067 a0001c0029t0002g0029 a0001c0029t0002g0103 a0001c0030t0003g0183 a0002c0004t0002g0005 a0003c0041t0001g0097 a0003c0044t0002g0030	18	194	0.0928	-20	c.512 others(39): Show c.512-17918_512-17899delCTTTCAGGCCAGACACTGGG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694062	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0002 a0001c0047t0002	a0001c0047t0002g0057 a0001c0047t0002g0057	1	194	0.0052	-20	c.511 others(39): Show c.511+82709_511+82728delGTGTATATATATATATATAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117725801	CACAAAAC others(13): Show CACAAAACAAAACAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0003 a0001c0042t0003	a0001c0042t0003g0127 a0001c0042t0003g0127	1	194	0.0052	-20	c.511 others(39): Show c.511+50970_511+50989delTTTGTTTTGTTTTGTTTTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780231	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0151 a0002c0004t0004g0151	1	194	0.0052	-20	c.364 others(35): Show c.364+242_364+261delTTTCTTTCTTTCTTTCTTTC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSCC1_chr8_119828976_119860894	119845051	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp1 HG01243.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	2	378	0.0053	-20	c.578 others(37): Show c.578-1324_578-1305delTAAATAAATAAATAAATAAA	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	4/8			chr8	TogoVar
DSG3_chr18_31442741_31483702	31457573	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19077.hp1 HG03688.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0007 a0001c0001t0002 a0002c0002t0007	a0001c0001t0002g0229 a0002c0002t0007g0209 a0001c0001t0002g0229 a0002c0002t0007g0209	2	346	0.0058	-20	c.216 others(35): Show c.216+452_216+471delTCTTTCTTTCTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457577	CTTTCTTT others(13): Show CTTTCTTTCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18961.hp2 NA18939.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0004g0097 a0001c0001t0001g0054 a0001c0001t0004g0097	2	346	0.0058	-20	c.216 others(35): Show c.216+456_216+475delTCTTTCTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457585	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19006.hp2 NA21309.hp2 HG02165.hp1 NA19006.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0006 a0002c0002t0045 a0001c0001t0024 a0002c0002t0006 a0002c0002t0045	a0001c0001t0024g0159 a0002c0002t0006g0176 a0002c0002t0045g0177 a0001c0001t0024g0159 a0002c0002t0006g0176 a0002c0002t0045g0177	3	346	0.0087	-20	c.216 others(35): Show c.216+500_216+519delCTTTCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSTYK_chr1_205137505_205216702	205207774	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19002.hp1 NA19007.hp1 NA18948.hp1 NA19002.hp1 NA19007.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0337 a0001c0008t0011g0338 a0001c0008t0011g0339 a0001c0008t0011g0337 a0001c0008t0011g0338 a0001c0008t0011g0339	3	348	0.0086	-20	c.265 others(37): Show c.265+3477_265+3496delCTTTTTTTTTTTTTTTTTTT	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	1/12			chr1	TogoVar
DST_chr6_56452996_56959830	56736982	TGGGCAAC others(13): Show TGGGCAACATGATGAAATCCG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01109.hp2 others(36): Show HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0017 a0018 a0020 a0021 a0024 a0025 a0026 a0030 a0031 a0033 a0034 a0035 a0037 a0048	a0001c0005 a0002c0002 a0003c0004 others(25): Show a0001c0005 a0002c0002 a0003c0004 a0006c0007 a0007c0008 a0007c0053 a0008c0049 a0008c0052 a0009c0016 a0009c0056 a0011c0015 a0013c0013 a0014c0011 a0015c0012 a0017c0023 a0018c0021 a0020c0022 a0021c0017 a0024c0019 a0025c0020 a0026c0014 a0030c0043 a0031c0054 a0033c0042 a0034c0050 a0035c0055 a0037c0028 a0048c0018	a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 others(25): Show a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 a0006c0007t0001 a0007c0008t0001 a0007c0053t0001 a0008c0049t0001 a0008c0052t0001 a0009c0016t0001 a0009c0056t0001 a0011c0015t0001 a0013c0013t0001 a0014c0011t0001 a0015c0012t0001 a0017c0023t0001 a0018c0021t0001 a0020c0022t0001 a0021c0017t0001 a0024c0019t0002 a0025c0020t0001 a0026c0014t0001 a0030c0043t0001 a0031c0054t0001 a0033c0042t0001 a0034c0050t0001 a0035c0055t0002 a0037c0028t0001 a0048c0018t0005	a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 others(36): Show a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0077 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0061 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 a0007c0008t0001g0052 a0007c0053t0001g0049 a0008c0049t0001g0020 a0008c0052t0001g0022 a0009c0016t0001g0060 a0009c0056t0001g0016 a0011c0015t0001g0058 a0013c0013t0001g0076 a0014c0011t0001g0075 a0015c0012t0001g0062 a0017c0023t0001g0082 a0018c0021t0001g0017 a0020c0022t0001g0027 a0021c0017t0001g0068 a0024c0019t0002g0074 a0025c0020t0001g0073 a0026c0014t0001g0059 a0030c0043t0001g0023 a0031c0054t0001g0028 a0033c0042t0001g0053 a0034c0050t0001g0019 a0035c0055t0002g0021 a0037c0028t0001g0070 a0048c0018t0005g0044	39	84	0.4643	-20	c.626 others(37): Show c.626-1713_626-1694delCGGATTTCATCATGTTGCCC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DST_chr6_56452996_56959830	56812109	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG03225.hp1 HG02451.hp2 HG02622.hp1 HG03225.hp1	a0002 a0021 a0002 a0021	a0002c0002 a0021c0017 a0002c0002 a0021c0017	a0002c0002t0001 a0021c0017t0001 a0002c0002t0001 a0021c0017t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0021c0017t0001g0068 a0002c0002t0001g0065 a0002c0002t0001g0066 a0021c0017t0001g0068	3	84	0.0357	-20	c.625 others(39): Show c.625+39268_625+39287delCTTTTCTTTTCTTTTCTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DTHD1_chr4_36276616_36352511	36332187	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(41): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18956.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA18994.hp2 NA19004.hp2 NA19010.hp2 NA19030.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0023 a0024	a0001c0001 a0001c0002 a0002c0003 others(9): Show a0001c0001 a0001c0002 a0002c0003 a0002c0049 a0003c0005 a0005c0006 a0006c0010 a0007c0013 a0010c0020 a0010c0044 a0023c0027 a0024c0028	a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 others(19): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0015 a0002c0003t0020 a0002c0003t0022 a0002c0049t0010 a0003c0005t0008 a0005c0006t0001 a0005c0006t0005 a0005c0006t0006 a0005c0006t0023 a0006c0010t0011 a0006c0010t0016 a0007c0013t0002 a0010c0020t0005 a0010c0044t0011 a0023c0027t0016 a0024c0028t0011	a0001c0001t0005g0014 a0001c0002t0002g0149 a0001c0002t0002g0187 others(39): Show a0001c0001t0005g0014 a0001c0002t0002g0149 a0001c0002t0002g0187 a0001c0002t0005g0065 a0001c0002t0005g0067 a0002c0003t0001g0241 a0002c0003t0003g0020 a0002c0003t0006g0211 a0002c0003t0015g0145 a0002c0003t0015g0156 a0002c0003t0015g0212 a0002c0003t0020g0095 a0002c0003t0020g0120 a0002c0003t0022g0085 a0002c0049t0010g0259 a0003c0005t0008g0126 a0005c0006t0001g0186 a0005c0006t0001g0208 a0005c0006t0001g0232 a0005c0006t0005g0039 a0005c0006t0005g0052 a0005c0006t0005g0221 a0005c0006t0005g0222 a0005c0006t0005g0223 a0005c0006t0005g0224 a0005c0006t0005g0239 a0005c0006t0006g0152 a0005c0006t0006g0153 a0005c0006t0023g0209 a0006c0010t0011g0137 a0006c0010t0016g0007 a0006c0010t0016g0108 a0007c0013t0002g0015 a0007c0013t0002g0234 a0007c0013t0002g0240 a0007c0013t0002g0243 a0010c0020t0005g0160 a0010c0020t0005g0170 a0010c0020t0005g0225 a0010c0044t0011g0263 a0023c0027t0016g0007 a0024c0028t0011g0107	44	308	0.1429	-20	c.234 others(39): Show c.2341-6872_2341-6853delAATAAAATAAAATAAAATAA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG02258.hp2 others(1): Show HG00544.hp1 HG00639.hp1 HG02258.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0234 a0001c0001t0001g0235 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244	4	364	0.0110	-20	c.460 others(37): Show c.460+4050_460+4069delTTTTTTTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNBP1_chr6_15517807_15668028	15567457	GAAACAAA others(13): Show GAAACAAACAAACAAACAAAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01258.hp2 others(8): Show HG00280.hp2 HG00408.hp2 HG01258.hp2 HG02080.hp1 NA18951.hp2 NA18964.hp1 NA18982.hp1 NA18986.hp1 NA19011.hp1 NA19011.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0177 a0001c0006t0001g0115	11	314	0.0350	-20	c.511 others(39): Show c.511+25582_511+25601delGTTTGTTTGTTTGTTTGTTT	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15585064	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(72): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18984.hp2 NA18993.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0002g0198 a0001c0001t0002g0277 a0001c0001t0002g0283 a0003c0003t0002g0201 a0003c0003t0002g0206	75	314	0.2389	-20	c.511 others(37): Show c.511+7975_511+7994delATATATATATATATATATAT	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25416804	CGAAGGAA others(13): Show CGAAGGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	168	0.0060	-20	c.157 others(39): Show c.1575+2691_1575+2710delCTTCCTTCCTTCCTTCCTTC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25420508	ATCTATCT others(13): Show ATCTATCTATCTATCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01243.hp2 others(5): Show HG00099.hp1 HG00738.hp2 HG01243.hp2 HG02148.hp2 HG02602.hp2 HG02735.hp2 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0033 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0152 a0003c0006t0001g0083	8	168	0.0476	-20	c.155 others(37): Show c.1555-993_1555-974delCAGACAGATAGATAGATAGA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	15/20			chr2	TogoVar

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