Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DENND6B_chr22_50304030_50332012	50307782	G G	GGGGAGGG others(37): Show GGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGAAGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0289	1	320	0.0031	44	c.43 others(55): Show c.4356_*4357insTCCCCCTCTTCCCCTCCCCCTCTTCCCCCTCCCC TCCCCCTCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1247		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(37): Show CGGGGGGGCGGCGAGGACAGGATGGGGGGCCGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18993.hp1 NA18971.hp2 NA18993.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0198 a0003c0005t0005g0205 a0003c0005t0005g0198 a0003c0005t0005g0205	2	38	0.0526	44	c.453 others(59): Show c.453+356_453+357insCACCCTGTCCTCGCGGCCCCCCATCCTGTC CTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902407	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0089 a0003c0004t0007g0089	1	194	0.0052	44	c.443 others(61): Show c.4436+605_4436+606insATATATATATATATATATATATATATAT ATATATATATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42			chr22	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0164 a0003c0004t0002g0164	1	42	0.0238	44	c.791 others(59): Show c.791-185_791-184insAATATATATATATATATATATATATATATA TATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(37): Show TGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	238	0.0042	44	c.67 others(55): Show c.6758_*6759insCACCGCCCCCCCACCCCCCCACCCCCCCACCCCC CCACCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594375	C C	CGGTGGGG others(37): Show CGGTGGGGGGGTGGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	295	0.0034	44	c.67 others(55): Show c.6721_*6722insACCGCCTCCCCCACCCCCCCACCGCCTCCCCCCA CCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3652		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313699	C C	CCCGCACC others(37): Show CCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18956.hp2 NA19007.hp2 others(1): Show HG02027.hp2 NA18956.hp2 NA19007.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	4	355	0.0113	44	c.28 others(55): Show c.2854_*2855insCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGA GGCGGTGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		884		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062802	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	336	0.0030	44	c.625 others(59): Show c.625+399_625+400insTAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062811	T T	TCTCTCTA others(37): Show TCTCTCTATCTATCTCTCTCTATCTATCTATCTATCTGCCTGATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0150	1	342	0.0029	44	c.625 others(59): Show c.625+390_625+391insTATCAGGCAGATAGATAGATAGATAGAGAG AGATAGATAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(37): Show TGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18980.hp1 HG02015.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	36	0.0556	44	c.-28 others(55): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC GCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCAAGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	44	c.-28 others(55): Show c.-2845_-2844insGCGTGCGCGCGCGCGCTTGCGCGCGCACACACAC ACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	44	c.-28 others(55): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC ACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	44	c.-28 others(55): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14211542	A A	ATGTTTTG others(37): Show ATGTTTTGTGATATTTACTCTCGTGTTTTGTGATATTTACTCTCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0075 a0001c0003t0014g0075	1	131	0.0076	44	c.212 others(65): Show c.2123-33392_2123-33391insCGAGAGTAAATATCACAAAACACG AGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211628	A A	ATGTTTTG others(37): Show ATGTTTTGTGATATTTACTCTCGTGTTTTGTGATATTTACTCTCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	128	0.0078	44	c.212 others(65): Show c.2123-33478_2123-33477insCGAGAGTAAATATCACAAAACACG AGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211939	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0024 a0001c0017t0024	a0001c0017t0024g0146 a0001c0017t0024g0146	1	106	0.0094	44	c.212 others(65): Show c.2123-33789_2123-33788insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212069	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	111	0.0090	44	c.212 others(65): Show c.2123-33919_2123-33918insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212069	T T	TTTTACTC others(37): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0057 a0001c0003t0005g0057	1	111	0.0090	44	c.212 others(65): Show c.2123-33919_2123-33918insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212259	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0075 a0001c0003t0014g0075	1	107	0.0093	44	c.212 others(65): Show c.2123-34109_2123-34108insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212365	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0083 a0001c0003t0004g0083	1	108	0.0093	44	c.212 others(65): Show c.2123-34215_2123-34214insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212408	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0075 a0001c0003t0014g0075	1	110	0.0091	44	c.212 others(65): Show c.2123-34258_2123-34257insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212408	T T	TATTTACT others(37): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0056 a0001c0003t0003g0056	1	110	0.0091	44	c.212 others(65): Show c.2123-34258_2123-34257insTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	15	0.0667	44	c.182 others(65): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186299767	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0176 a0005c0011t0003g0177 a0005c0011t0003g0176 a0005c0011t0003g0177	2	134	0.0149	44	c.145 others(61): Show c.145-1539_145-1538insAAGAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186299838	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0207 a0001c0002t0009g0207	1	210	0.0048	44	c.145 others(61): Show c.145-1610_145-1609insGGAAGGAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKI_chr7_137376037_137851974	137472316	A A	ATAATATA others(37): Show ATAATATAATATGTATATACATATAATAATTATATGTATATACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0025 a0001c0006t0008 a0001c0002t0025 a0001c0006t0008	a0001c0002t0025g0013 a0001c0006t0008g0044 a0001c0006t0008g0053 others(1): Show a0001c0002t0025g0013 a0001c0006t0008g0044 a0001c0006t0008g0053 a0001c0006t0008g0054	4	88	0.0455	44	c.237 others(63): Show c.2374-2698_2374-2697insATGTATATACATATAATTATTATATG TATATACATATTATATTA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137472320	T T	TATAATAT others(37): Show TATAATATGTATATACATATAATAATTATATGTATATACATTAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG03139.hp1 others(4): Show HG02055.hp2 HG02109.hp1 HG03139.hp1 HG03471.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0010 a0001c0023 a0001c0009 a0001c0010 a0001c0023	a0001c0009t0010 a0001c0010t0009 a0001c0010t0012 others(2): Show a0001c0009t0010 a0001c0010t0009 a0001c0010t0012 a0001c0010t0016 a0001c0023t0009	a0001c0009t0010g0069 a0001c0009t0010g0084 a0001c0010t0009g0047 others(4): Show a0001c0009t0010g0069 a0001c0009t0010g0084 a0001c0010t0009g0047 a0001c0010t0012g0037 a0001c0010t0012g0058 a0001c0010t0016g0025 a0001c0023t0009g0015	7	61	0.1148	44	c.237 others(63): Show c.2374-2702_2374-2701insTTTAATGTATATACATATAATTATTA TATGTATATACATATTAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137472356	A A	ATATATAC others(37): Show ATATATACATATAATTATATGTATATATACATATAATATTTAATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG03041.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0010 a0001c0023 others(1): Show a0001c0009 a0001c0010 a0001c0023 a0002c0020	a0001c0009t0010 a0001c0010t0009 a0001c0010t0012 others(3): Show a0001c0009t0010 a0001c0010t0009 a0001c0010t0012 a0001c0010t0016 a0001c0023t0009 a0002c0020t0001	a0001c0009t0010g0069 a0001c0009t0010g0084 a0001c0010t0009g0047 others(5): Show a0001c0009t0010g0069 a0001c0009t0010g0084 a0001c0010t0009g0047 a0001c0010t0012g0037 a0001c0010t0012g0058 a0001c0010t0016g0025 a0001c0023t0009g0015 a0002c0020t0001g0034	8	90	0.0889	44	c.237 others(63): Show c.2374-2738_2374-2737insCATTAAATATTATATGTATATATACA TATAATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DHODH_chr16_72003744_72032659	72020361	A A	ATATATAT others(37): Show ATATATATATATATATATGTGTATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0060 a0002c0002t0023g0060	1	412	0.0024	44	c.518 others(59): Show c.518-752_518-751insATATATGTGTATATATATATATATATATAT GTGTATATATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHX35_chr20_38957344_39044721	39042999	C C	CTTATTTT others(37): Show CTTATTTTATATATAATTAATTTATTAAATTTATTAATTTAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	288	0.0035	44	c.44 others(55): Show c.4456_*4457insTTATTTTATATATAATTAATTTATTAAATTTATT AATTTAATAT	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding		3279		chr20	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	119	0.0084	44	c.118 others(61): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 HG02922.hp2 others(1): Show HG01081.hp1 HG02572.hp1 HG02922.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0103	4	294	0.0136	44	c.118 others(61): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	291	0.0034	44	c.118 others(61): Show c.118-3463_118-3462insAATATATATAATATATAATATATATATA TATATATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939506	A A	ATATGTAT others(37): Show ATATGTATATATATATGTATATATATATGTATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18522.hp1 NA21309.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0001c0001t0001 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0144 a0001c0001t0012g0003 a0001c0004t0001g0142 a0001c0001t0001g0144 a0001c0001t0012g0003 a0001c0004t0001g0142	3	146	0.0205	44	c.132 others(61): Show c.1325+127_1325+128insGTATATATATATGTATATATATATGTAT GTATATATATATGTAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939506	A A	ATATGTAT others(37): Show ATATGTATATATATATGTATATATATATGTATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	144	0.0069	44	c.132 others(61): Show c.1325+127_1325+128insGTATATATATATGTATATATATATGTAT GTGTATATATATGTAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	104	0.0096	44	c.132 others(61): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129089	A A	ATCTTTTC others(37): Show ATCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	66	0.0152	44	c.259 others(65): Show c.2590-12536_2590-12535insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129102	T T	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0142 a0001c0004t0001g0142	1	147	0.0068	44	c.259 others(65): Show c.2590-12540_2590-12497dupTCTTTTCTTTTCTTTTCTTTTCTT TCTTTTCTTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	376258	A A	AGAGCCGG others(37): Show AGAGCCGGCAGGGAGAAGGACCCAGGCCCACCTCGGCCCCCGACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	80	0.0125	44	c.199 others(63): Show c.1991+6345_1991+6388dupCGTCGGGGGCCGAGGTGGGCCTGGGT CCTTCTCCCTGCCGGCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418105	C C	CCACCTGC others(37): Show CCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02027.hp1 HG01515.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0005 a0001c0012t0002 a0001c0001t0005 a0001c0012t0002	a0001c0001t0005g0023 a0001c0012t0002g0047 a0001c0001t0005g0023 a0001c0012t0002g0047	2	69	0.0290	44	c.739 others(59): Show c.739+959_739+960insCAGGTGGACAGGGAGGCCTGTCCGAGCTCT GACAGGTGCAGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418105	C C	CCACCTGC others(37): Show CCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	68	0.0147	44	c.739 others(59): Show c.739+959_739+960insCAGGTGGACAGGGAGGCCTATCCGAGCCCT GACAGGTGCAGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478315	A A	AGGGGAGG others(37): Show AGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp2 HG00609.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0003 a0001c0002t0003 a0001c0011t0003	a0001c0002t0003g0069 a0001c0011t0003g0088 a0001c0002t0003g0069 a0001c0011t0003g0088	2	86	0.0233	44	c.158 others(61): Show c.158-5767_158-5766insCCTCCCCTCCCTTCTCCCCTCCCCTCCC TTCTTCTCCCCTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608387	A A	ACACACAC others(37): Show ACACACACACCCCCACAGCCCCCCACACACACCCCCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0057 a0001c0023t0003g0057	1	69	0.0145	44	c.85+ others(61): Show c.85+81063_85+81106dupGGGGGGGCTGGGGGTGTGTGTGGGGGGC TGTGGGGGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619532	C C	CAGGGCCA others(37): Show CAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0017 a0001c0008t0001g0017	1	74	0.0135	44	c.85+ others(61): Show c.85+69961_85+69962insTTGGCCCTGGCCCTGGCCCTGGCCCTGG CCCTGGCCCTGGCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(37): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	40	0.0250	44	c.85+ others(61): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTCTATATAT ATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846819	A A	ATATATAT others(37): Show ATATATATGTGTGTATATATATATATATATATATACACACACACG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	187	0.0053	44	c.474 others(59): Show c.474+363_474+364insCGTGTGTGTGTATATATATATATATATATA TACACACATATATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TACACACA others(37): Show TACACACACACGTATATATATATATACACGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18979.hp2 NA19077.hp2 NA18962.hp1 NA18979.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0199 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0003g0199 a0001c0001t0006g0095 a0001c0001t0006g0096	3	78	0.0385	44	c.474 others(59): Show c.474+334_474+335insGTATATATATATATACGTGTATATATATAT ATACGTGTGTGTGT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIRAS1_chr19_2709567_2726372	2713097	C C	CCACCTCC others(37): Show CCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	44	c.41 others(55): Show c.4112_*4113insATGGGTGTAGGAAGTGAGAGATGGCATTAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1469		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713110	C C	CCTTAATG others(37): Show CCTTAATGCCATCTCTCACTTCCTACACCCATCACCTCCTCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	410	0.0024	44	c.40 others(55): Show c.4099_*4100insAGTGGAGGAGGTGATGGGTGTAGGAAGTGAGAGA TGGCATTAAG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1456		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713153	T T	TCCTTCAT others(37): Show TCCTTCATCCCATCCCTCACTTCCTACACCCATCGCCTCCTCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	404	0.0025	44	c.40 others(55): Show c.4056_*4057insGTGGAGGAGGCGATGGGTGTAGGAAGTGAGGGAT GGGATGAAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1413		chr19	TogoVar

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