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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUC4_chr3_195741771_195816929	195783202	GCTGAGGA others(137): Show GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATAC TGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03209.hp2	a0052 a0052	a0052c0140 a0052c0140	a0052c0140t0002 a0052c0140t0002	a0052c0140t0002g0062 a0052c0140t0002g0062	1	249	0.0040	-144	c.823 others(9): Show c.8234_8377del	p.Val others(15): Show p.Val2745_Ser2792del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8489/16756	8234/16239	2745/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783408	GGTGACAG others(137): Show GGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGG TGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTG ACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0179 others(2): Show a0026 a0175 a0179 a0180 a0181	a0026c0009 a0175c0031 a0179c0032 others(2): Show a0026c0009 a0175c0031 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 others(2): Show a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(3): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	6	249	0.0241	-144	c.802 others(9): Show c.8028_8171del	p.Ser others(15): Show p.Ser2677_Thr2724del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8283/16756	8028/16239	2676/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783451	GTGTCGGT others(137): Show GTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGT GTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0199 a0060c0199	a0060c0199t0009 a0060c0199t0009	a0060c0199t0009g0224 a0060c0199t0009g0224	1	249	0.0040	-144	c.798 others(9): Show c.7985_8128del	p.Leu others(21): Show p.Leu2662_Thr2710delinsPro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8240/16756	7985/16239	2662/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784244	CATGACCT others(137): Show CATGACCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTG TCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGGGTGGCGTG ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp2 HG02976.hp2	a0062 a0062	a0062c0197 a0062c0197	a0062c0197t0009 a0062c0197t0009	a0062c0197t0009g0243 a0062c0197t0009g0243	1	249	0.0040	-144	c.719 others(9): Show c.7192_7335del	p.Thr others(15): Show p.Thr2398_His2445del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7447/16756	7192/16239	2398/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785355	TGTGGATG others(137): Show TGTGGATGCTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTG TGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGTCCTGACCTGTG GATGCTGAGGAAGTATCGGTGACAGGAAGCGGCGTGGTGTCACCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00099.hp2	a0181 a0181	a0181c0036 a0181c0036	a0181c0036t0002 a0181c0036t0002	a0181c0036t0002g0191 a0181c0036t0002g0191	1	249	0.0040	-144	c.608 others(9): Show c.6081_6224del	p.Gly others(15): Show p.Gly2028_Thr2075del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6336/16756	6081/16239	2027/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785374	TTAGTGAC others(137): Show TTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGG TGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp2 NA18906.hp2	a0080 a0080	a0080c0170 a0080c0170	a0080c0170t0005 a0080c0170t0005	a0080c0170t0005g0240 a0080c0170t0005g0240	1	249	0.0040	-144	c.606 others(9): Show c.6062_6205del	p.Ser others(15): Show p.Ser2021_Thr2068del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6317/16756	6062/16239	2021/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788303	CAGTGACA others(137): Show CAGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGTGTCAGT GACAGGAAGAGGGGTGCTGTCACCTGTGGATGCTGAGGAAAAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0107 a0107	a0107c0041 a0107c0041	a0107c0041t0001 a0107c0041t0001	a0107c0041t0001g0179 a0107c0041t0001g0179	1	249	0.0040	-144	c.313 others(9): Show c.3133_3276del	p.Ser others(15): Show p.Ser1045_Thr1092del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3388/16756	3133/16239	1045/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(137): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0014 a0001c0001t0032g0014	1	326	0.0031	-144	c.628 others(17): Show c.628+4189_628+4332del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYADM_chr19_53862883_53881435	53870080	GGGGTCTG others(137): Show GGGGTCTGGACTCCTGGGTCCGAGGAAGGAGGGGCTGGGGTCTGGACTCC TGGGTCCGAGGAAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCCGAGGGA GGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAGGGAGGAGGGGCT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0059 a0001c0001t0067g0059	1	378	0.0027	-144	c.-3+ others(13): Show c.-3+246_-3+389del		MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543723	GTGCTGGT others(137): Show GTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGT GGTGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0150 a0001c0002t0003g0116 a0001c0002t0002g0150 a0001c0002t0003g0116	2	342	0.0059	-144	c.152 others(17): Show c.1524+430_1524+573del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543735	CTGGTGGT others(137): Show CTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGT GCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0115 a0001c0002t0005g0115	1	342	0.0029	-144	c.152 others(17): Show c.1524+418_1524+561del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYT1L_chr2_1784113_2336275	2185535	CGGACGCA others(137): Show CGGACGCAGCCGGGCCTCCTCGAGTCCCGCGTTCCTTCCGTGAGGGGGAC GCAGCCAGGCCTTCCGGGCCTTCCCGAGTCCCGCGTTCCTTCTGTGAGGC GGACGCAGCCGGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0074 a0001c0005t0011g0074	1	104	0.0096	-144	c.-42 others(21): Show c.-420-12691_-420-12548del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1_chr20_64159452_64247253	64174101	GTTGTGTC others(137): Show GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	223	0.0045	-144	c.-99 others(17): Show c.-99+9364_-99+9507del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174583	CCTGTAGC others(137): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	223	0.0045	-144	c.-99 others(17): Show c.-99+9847_-99+9990del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175601	GTTGTGTC others(137): Show GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp2 HG03209.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0020 a0001c0001t0003 a0002c0008t0020	a0001c0001t0003g0015 a0002c0008t0020g0111 a0001c0001t0003g0015 a0002c0008t0020g0111	2	223	0.0090	-144	c.-99 others(19): Show c.-99+10864_-99+11007del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NAP1L5_chr4_88690913_88702829	88698989	TTTCCTCA others(137): Show TTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCT TCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTC CTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	414	0.0024	-144	c.-13 others(11): Show c.-1379_-1236del		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1161		chr4	TogoVar
NBL1_chr1_19639311_19663452	19642973	GAGGGTCT others(137): Show GAGGGTCTTGGGAAGGCTTTCCAATCTGGAGCTGGAAGAATGTTTGCCCA AGAGATGTACACAGTTATTCTAGAGGGAAATTGACATGAACAGAAGTTCT CATCCTGTGCTCCAGGATCACACTGGAGGAGGGAGATGCTCCCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01099.hp1 others(53): Show HG00639.hp1 HG00642.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp1 NA19030.hp1 NA19043.hp2 NA19067.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0002c0004t0004	a0001c0001t0004g0012 a0001c0001t0004g0025 a0001c0001t0004g0048 others(36): Show a0001c0001t0004g0012 a0001c0001t0004g0025 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0126 a0001c0001t0004g0212 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0229 a0001c0001t0005g0026 a0001c0001t0005g0051 a0001c0001t0005g0125 a0001c0001t0005g0226 a0001c0001t0006g0016 a0001c0001t0006g0105 a0001c0001t0006g0109 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0007g0033 a0001c0001t0007g0110 a0001c0001t0007g0213 a0001c0001t0008g0050 a0001c0001t0008g0053 a0001c0001t0008g0218 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0220 a0001c0001t0012g0008 a0001c0001t0020g0228 a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0001t0026g0250 a0001c0001t0027g0124 a0001c0001t0031g0106 a0002c0004t0004g0049	56	412	0.1359	-144	c.-14 others(11): Show c.-1492_-1349del		NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding					1337		chr1	TogoVar
NEU4_chr2_241804193_241822413	241805638	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	319	0.0031	-144	c.-36 others(11): Show c.-3639_-3496del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3554		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806995	CCCCTCAG others(137): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG03834.hp1 NA18747.hp2 HG01192.hp1 HG03834.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0002t0001g0075 a0001c0004t0001g0005 a0001c0001t0001g0001 a0001c0002t0001g0075 a0001c0004t0001g0005	3	319	0.0094	-144	c.-22 others(11): Show c.-2282_-2139del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2197		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806996	CCCTCAGC others(137): Show CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-144	c.-22 others(11): Show c.-2281_-2138del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2196		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807939	TCCCCCCT others(137): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0195 a0002c0003t0002g0195	1	319	0.0031	-144	c.-13 others(11): Show c.-1338_-1195del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1253		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79427368	TACGGCTG others(137): Show TACGGCTGGCCTCTGTGCAGTGGGTTGGGGGGAGCTGGATGGCTGGCCTC TGTGCGGTGGGTGGGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTG GGGGCTGTACCACTGGCCTCTGTGCGGTGGGTCGGGGGAAGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02572.hp1 others(6): Show HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0035 others(1): Show a0001c0005 a0001c0013 a0001c0035 a0001c0056	a0001c0005t0005 a0001c0013t0005 a0001c0013t0007 others(4): Show a0001c0005t0005 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0035t0054 a0001c0056t0009	a0001c0005t0005g0083 a0001c0013t0005g0114 a0001c0013t0005g0310 others(6): Show a0001c0005t0005g0083 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0035t0054g0312 a0001c0056t0009g0137	9	322	0.0280	-144	c.122 others(19): Show c.1227-6186_1227-6043del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79482939	CCTGGGGT others(137): Show CCTGGGGTGTAATTCCAGCGTGACCTGGTTCCTGGGGTGTAATTCTAGCG TGACCTGGTCCTGGGGTGTCACTCCAGTGTGACCTGGTTCCTGGGTAATT CCAGCGTGACCTGGTCCTGGGGTGTCACTCCAGCGTGACCTGGTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01123.hp1 others(2): Show HG00733.hp2 HG00741.hp1 HG01123.hp1 HG01517.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0007 a0001c0029 a0003c0007	a0001c0029t0004 a0003c0007t0001 a0003c0007t0002 others(1): Show a0001c0029t0004 a0003c0007t0001 a0003c0007t0002 a0003c0007t0008	a0001c0029t0004g0096 a0003c0007t0001g0206 a0003c0007t0002g0025 others(2): Show a0001c0029t0004g0096 a0003c0007t0001g0206 a0003c0007t0002g0025 a0003c0007t0008g0020 a0003c0007t0008g0031	5	322	0.0155	-144	c.209 others(19): Show c.2093-3264_2093-3121del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD2_chr5_1003802_1043943	1036851	AGCAGGCA others(137): Show AGCAGGCAGTGTGGATGGCAGGCAGGCAGTGTGGATGGCGGGCAGTGTGG ATGGCAGCCAGGCAGTGTGGACGGCGGGCAGTGTGGATGGCAGGCGGGCA GTGTGGACGGCGGGCAGTGTGGACAGCGAGCAGTGTGGATGGCAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	319	0.0031	-144	c.787 others(15): Show c.787+486_787+629del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993470	CTCCCCCC others(137): Show CTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCTCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00639.hp1 others(32): Show HG00323.hp2 HG00558.hp2 HG00639.hp1 HG01106.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG01975.hp1 HG02027.hp1 HG02145.hp2 HG02165.hp2 HG02683.hp1 HG02922.hp2 HG03491.hp1 HG04115.hp2 HG04228.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18965.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18992.hp1 NA19007.hp2 NA19057.hp2 NA19068.hp2 NA19079.hp2 NA19086.hp1 NA19090.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0001 a0000c0002 a0000c0003 others(10): Show a0000c0001 a0000c0002 a0000c0003 a0000c0004 a0000c0011 a0000c0014 a0000c0015 a0000c0025 a0000c0037 a0000c0040 a0000c0049 a0000c0068 a0001c0005	a0000c0001t0001 a0000c0001t0004 a0000c0002t0001 others(16): Show a0000c0001t0001 a0000c0001t0004 a0000c0002t0001 a0000c0002t0004 a0000c0002t0028 a0000c0002t0063 a0000c0002t0065 a0000c0003t0002 a0000c0004t0002 a0000c0011t0001 a0000c0014t0001 a0000c0015t0019 a0000c0025t0001 a0000c0037t0004 a0000c0040t0002 a0000c0049t0002 a0000c0068t0006 a0001c0005t0002 a0001c0005t0046	a0000c0001t0001g0037 a0000c0001t0001g0038 a0000c0001t0001g0067 others(32): Show a0000c0001t0001g0037 a0000c0001t0001g0038 a0000c0001t0001g0067 a0000c0001t0004g0066 a0000c0002t0001g0002 a0000c0002t0001g0006 a0000c0002t0001g0086 a0000c0002t0001g0240 a0000c0002t0001g0257 a0000c0002t0001g0272 a0000c0002t0001g0306 a0000c0002t0004g0002 a0000c0002t0004g0278 a0000c0002t0004g0279 a0000c0002t0004g0311 a0000c0002t0028g0241 a0000c0002t0028g0276 a0000c0002t0063g0287 a0000c0002t0065g0256 a0000c0003t0002g0101 a0000c0003t0002g0123 a0000c0003t0002g0128 a0000c0003t0002g0130 a0000c0003t0002g0146 a0000c0004t0002g0219 a0000c0011t0001g0021 a0000c0014t0001g0205 a0000c0015t0019g0197 a0000c0025t0001g0133 a0000c0037t0004g0152 a0000c0040t0002g0207 a0000c0049t0002g0285 a0000c0068t0006g0023 a0001c0005t0002g0140 a0001c0005t0046g0113	35	350	0.1000	-144	c.55 others(11): Show c.5558_*5701del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4842		chr19	TogoVar
NRBP1_chr2_27423631_27447259	27446978	CGTGAGCC others(137): Show CGTGAGCCACCGCGCCCGGCCAACCTGGCTAATTTTTATGTTTTTAGTAG AGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCA AGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	276	0.0036	-144	c.51 others(11): Show c.5167_*5310del		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					4720		chr2	TogoVar
NUB1_chr7_151336812_151383449	151360895	TCAAAGTG others(137): Show TCAAAGTGCTGGTATTACAGGTGTGAGTCGCTGTGTCGGCTTTTTTTTTT TTTTTTTTTTTTTAATTATACAGATGGGGTCTCCCTGTGTTGCTCAGGCT GATCTTGAACTCCTGGACTCATGTGATCCTCCTGCCTTGGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(272): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0006c0014 a0007c0013 a0009c0015 a0010c0008 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0013 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0004t0001 a0002c0006t0002 a0006c0014t0001 a0007c0013t0001 a0009c0015t0002 a0010c0008t0009 a0011c0009t0009	a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0002 others(249): Show a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0294 a0001c0001t0003g0032 a0001c0001t0003g0135 a0001c0001t0003g0205 a0001c0001t0003g0258 a0001c0001t0003g0264 a0001c0001t0003g0273 a0001c0001t0003g0313 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0357 a0001c0001t0004g0027 a0001c0001t0004g0066 a0001c0001t0004g0129 a0001c0001t0004g0158 a0001c0001t0004g0287 a0001c0001t0004g0326 a0001c0001t0004g0329 a0001c0001t0004g0354 a0001c0001t0004g0356 a0001c0001t0005g0019 a0001c0001t0005g0056 a0001c0001t0005g0107 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0222 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0247 a0001c0001t0005g0293 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0005g0368 a0001c0001t0005g0371 a0001c0001t0005g0374 a0001c0001t0008g0200 a0001c0001t0008g0202 a0001c0001t0010g0239 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0266 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0334 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0370 a0001c0002t0001g0377 a0001c0002t0001g0378 a0001c0002t0013g0285 a0001c0003t0002g0035 a0001c0003t0002g0104 a0001c0003t0002g0120 a0001c0003t0002g0242 a0001c0003t0002g0308 a0001c0003t0002g0330 a0001c0003t0002g0336 a0001c0003t0002g0337 a0001c0003t0003g0338 a0001c0003t0003g0339 a0001c0003t0004g0189 a0001c0003t0004g0191 a0001c0003t0005g0310 a0001c0003t0005g0366 a0001c0003t0007g0259 a0001c0004t0001g0045 a0001c0004t0001g0055 a0001c0004t0001g0063 a0001c0004t0001g0080 a0001c0004t0001g0100 a0001c0004t0001g0174 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0214 a0001c0004t0001g0360 a0002c0006t0002g0089 a0002c0006t0002g0092 a0006c0014t0001g0298 a0007c0013t0001g0169 a0009c0015t0002g0124 a0010c0008t0009g0004 a0011c0009t0009g0070	275	418	0.6579	-144	c.800 others(15): Show c.800+660_800+803del		NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
NUB1_chr7_151336812_151383449	151360907	TATTACAG others(137): Show TATTACAGGTGTGAGTCGCTGTGTCGGCTTTTTTTTTTTTTTTTTTTTTT TAATTATACAGATGGGGTCTCCCTGTGTTGCTCAGGCTGATCTTGAACTC CTGGACTCATGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	418	0.0024	-144	c.800 others(15): Show c.800+675_800+818del		NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	893649	CCCCTGGA others(137): Show CCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAATGCCCTGGAAGCCAGAGGAAGCATCTCAACCCCTGGAAGCCAG AGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18980.hp2 NA19011.hp1 HG02015.hp1 NA18980.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0001t0004g0224 a0001c0001t0001g0049 a0001c0001t0001g0154 a0001c0001t0004g0224	3	242	0.0124	-144	c.361 others(19): Show c.361-67715_361-67572del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OR2B2_chr6_27906185_27917396	27917232	GTATTCTA others(137): Show GTATTCTACTTACCTCCATTTTAAGCATTAGAGGTAGATCAATTTTTTTT TTTTTGTCTAAGAAGCCTTGAGTTCAAATAGGACTAATTTAAAGTGCACA GATACAACGTCTTCATACACTTAGTTGTATAATTGATTTCATGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	398	0.0025	-144	c.-50 others(11): Show c.-5057_-4914del		OR2B2	ENSG00000168131.4	transcript	ENST00000303324.4	protein_coding					4837		chr6	TogoVar
OSBP2_chr22_30689874_30912813	30741799	ACATTTTG others(137): Show ACATTTTGTTTCTTACTTTATAAATTTATTTTATTTTTTGAGATAGAGTC TCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGC AACCTCTGCCTTCCGTGTTCAAGCAATTATCCTGCCTTAGCCTCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0015 a0001c0016 a0001c0015 a0001c0016	a0001c0015t0002 a0001c0016t0003 a0001c0015t0002 a0001c0016t0003	a0001c0015t0002g0253 a0001c0016t0003g0254 a0001c0015t0002g0253 a0001c0016t0003g0254	2	268	0.0075	-144	c.853 others(15): Show c.853+433_853+576del		OSBP2	ENSG00000184792.16	transcript	ENST00000332585.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr22	TogoVar
OXSR1_chr3_38160537_38260484	38161590	TATGTATA others(137): Show TATGTATATTTCATATACATATGTCATATATTATGTATATTTCATATACA TATGTCATATATTATGTATATTTCATATACATGTCATATATTATGTATAT TTCATATACATATGTCATATATTATGTATATTTCATATACATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0010 a0002c0002t0015g0010	1	248	0.0040	-144	c.-42 others(11): Show c.-4286_-4143del		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3946		chr3	TogoVar
PADI1_chr1_17200128_17251007	17241451	GAGGGTTG others(137): Show GAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTG AAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCAGAATCGG GATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(123): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0017 a0001c0018 a0002c0007 a0005c0011 a0006c0024 a0006c0027 a0009c0028 a0010c0032	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0026 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0002c0007t0001 a0005c0011t0001 a0006c0024t0016 a0006c0027t0001 a0009c0028t0001 a0010c0032t0001	a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0061 others(119): Show a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0308 a0001c0001t0001g0341 a0001c0001t0004g0098 a0001c0001t0004g0274 a0001c0001t0004g0278 a0001c0001t0004g0301 a0001c0001t0004g0335 a0001c0001t0006g0048 a0001c0001t0008g0368 a0001c0001t0008g0389 a0001c0001t0011g0208 a0001c0001t0011g0321 a0001c0001t0012g0049 a0001c0001t0012g0316 a0001c0001t0021g0338 a0001c0002t0001g0003 a0001c0002t0001g0047 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0196 a0001c0002t0001g0200 a0001c0002t0001g0220 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0246 a0001c0002t0001g0269 a0001c0002t0001g0272 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0312 a0001c0002t0001g0330 a0001c0002t0001g0349 a0001c0002t0001g0358 a0001c0002t0001g0366 a0001c0002t0001g0378 a0001c0002t0002g0203 a0001c0002t0002g0214 a0001c0002t0002g0227 a0001c0002t0002g0249 a0001c0002t0002g0327 a0001c0002t0002g0334 a0001c0002t0002g0375 a0001c0002t0017g0347 a0001c0002t0026g0387 a0001c0003t0001g0063 a0001c0003t0001g0146 a0001c0003t0001g0164 a0001c0003t0004g0059 a0001c0003t0004g0279 a0001c0004t0001g0010 a0001c0004t0001g0127 a0001c0004t0001g0137 a0001c0004t0001g0205 a0001c0004t0001g0324 a0001c0004t0001g0340 a0001c0004t0002g0096 a0001c0004t0002g0264 a0001c0005t0001g0083 a0001c0005t0001g0197 a0001c0005t0001g0204 a0001c0005t0001g0206 a0001c0005t0008g0343 a0001c0006t0001g0053 a0001c0006t0001g0123 a0001c0006t0001g0182 a0001c0006t0002g0118 a0001c0006t0002g0285 a0001c0006t0002g0298 a0001c0008t0001g0211 a0001c0008t0001g0250 a0001c0008t0001g0267 a0001c0008t0002g0222 a0001c0009t0001g0026 a0001c0016t0001g0016 a0001c0017t0001g0022 a0001c0018t0001g0019 a0002c0007t0001g0013 a0005c0011t0001g0364 a0006c0024t0016g0153 a0006c0027t0001g0140 a0009c0028t0001g0125 a0010c0032t0001g0017	126	406	0.3103	-144	c.175 others(17): Show c.1758+743_1758+886del		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196827937	ATCCTCAG others(137): Show ATCCTCAGACCTGTTTACAGTTTGTGCATCGTATCAATCCTCAGACCTGT TTACAGTTTGTGCATCGTATCAATCCTCAGACCTGTTTACAGTTTGTGCA TCGTATCAATCCTCAGACCTGTTTACAGTTTGTGCATCGTATCAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02647.hp1 others(1): Show HG02055.hp2 HG02622.hp1 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0071 a0001c0001t0017g0100 a0001c0001t0017g0101 others(1): Show a0001c0001t0007g0071 a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0103	4	178	0.0225	-144	c.148 others(17): Show c.1489-365_1489-222del		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PARD3B_chr2_204540475_205625162	204998358	ATGTGTGT others(137): Show ATGTGTGTGTGTGTGTGTATATATGTGTGTGTATATATGTATATATGTGT ATATATATGTATATATGTGTATATATATGTGTGTGTATATATATGTGTAT ATTATATATGTATATATATGTGTATATAATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0011 a0006c0014t0011	a0006c0014t0011g0023 a0006c0014t0011g0023	1	54	0.0185	-144	c.394 others(19): Show c.394+33039_394+33182del		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204998370	GTGTGTAT others(137): Show GTGTGTATATATGTGTGTGTATATATGTATATATGTGTATATATATGTAT ATATGTGTATATATATGTGTGTGTATATATATGTGTATATTATATATGTA TATATATGTGTATATAATATATGTATATATATGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0010 a0003c0005t0001g0010	1	54	0.0185	-144	c.394 others(19): Show c.394+33053_394+33196del		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP6_chr15_72236181_72277554	72275860	AGTGTCAT others(137): Show AGTGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGG TGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGGTG TCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(178): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0017 a0001c0001t0003g0130 a0001c0001t0006g0053 a0001c0001t0008g0146 a0001c0003t0004g0049 a0001c0003t0004g0170 a0001c0005t0001g0055	181	396	0.4571	-144	c.-40 others(11): Show c.-4071_-3928del		PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding					3307		chr15	TogoVar
PARVB_chr22_44019302_44177939	44114864	AGCTAAGG others(137): Show AGCTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTG TACCAACACAGATATATTGTTACTAACTAAGGCCCTGCACCAACACAGAT ACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	332	0.0030	-144	c.274 others(17): Show c.274-4173_274-4030del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12						chr22	TogoVar
PARVB_chr22_44019302_44177939	44115014	GGCCCTGC others(137): Show GGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAA CACAGATACATTGTTACTAACTAAGGCCCTGCACCAGAACGGATACATTG TTACTAAGTAAGGCCCTGCACCAACACAGATACACTGTTACTAAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0154 a0001c0002t0001g0125 a0001c0001t0009g0154 a0001c0002t0001g0125	2	332	0.0060	-144	c.274 others(17): Show c.274-4023_274-3880del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12						chr22	TogoVar
PCBP3_chr21_45638725_45947450	45918687	GGGGAAGA others(137): Show GGGGAAGAAGTTACTCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGA GGAAGAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTGGGGG AAGAAGTTACCCTCAGATAAACCATTGGTGTAATTCCAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02976.hp1 others(1): Show HG02055.hp2 HG02486.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0001t0003 a0001c0001t0004 a0001c0002t0009	a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0002t0009g0215 others(1): Show a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0002t0009g0215 a0001c0002t0009g0285	4	292	0.0137	-144	c.717 others(17): Show c.717+1072_717+1215del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE11A_chr2_177618244_178077777	177946689	GGGGTCAG others(137): Show GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	170	0.0059	-144	c.107 others(21): Show c.1072-41646_1072-41503del		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19						chr2	TogoVar
PIGQ_chr16_564968_589109	579598	AGAGGTGC others(137): Show AGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTTGAG GTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0277	1	408	0.0025	-144	c.133 others(17): Show c.1335+490_1336-370del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCB4_chr20_9064087_9485808	9189001	ATATAGTG others(137): Show ATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCAT ATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCCTAT AGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	140	0.0071	-144	c.-78 others(19): Show c.-78-28267_-78-28124del		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	164882	GGGGCGGA others(137): Show GGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAAT GCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCAGGGCTCACAGTAATGCTCTGACA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp2 HG04115.hp1 others(1): Show HG01071.hp1 HG01175.hp2 HG04115.hp1 HG04204.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0039	a0002c0003 a0003c0009 a0004c0006 others(1): Show a0002c0003 a0003c0009 a0004c0006 a0039c0062	a0002c0003t0002 a0003c0009t0120 a0004c0006t0123 others(1): Show a0002c0003t0002 a0003c0009t0120 a0004c0006t0123 a0039c0062t0010	a0002c0003t0002g0101 a0003c0009t0120g0013 a0004c0006t0123g0003 others(1): Show a0002c0003t0002g0101 a0003c0009t0120g0013 a0004c0006t0123g0003 a0039c0062t0010g0165	4	210	0.0191	-144	c.347 others(19): Show c.3476+1350_3476+1493del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLG_chr15_89311320_89339824	89325103	AGTGAGAG others(137): Show AGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	3	398	0.0075	-144	c.194 others(17): Show c.1949+203_1949+346del		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
PPP2R3B_chrX_328933_391907	339777	GGAGGAGC others(137): Show GGAGGAGCCGGGGGGGGTGAGAAGGGAGGAGCCGGAGGGGGTGAGAGGGG AGGAGCCGGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGAGAGGGG AGGAGCCGGGGGGGGGTGAGAGGGGAGGAGCTGGGGGGGGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	-144	c.135 others(17): Show c.1351+844_1352-882del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12						chrX	TogoVar
PRDM16_chr1_3064203_3443621	3165634	TGGGCTCA others(137): Show TGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTG GGCCCAGGGACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGG CTCAGGGACAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0142 a0002c0003t0001g0142	1	210	0.0048	-144	c.38- others(17): Show c.38-20467_38-20324del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165740	GACAGTGA others(137): Show GACAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGA CAGGGACTCACCAGGGCTCAGGCACAGGGACTCACCTGGGCTCAGGGACA GGGACTCACCAGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	210	0.0048	-144	c.38- others(17): Show c.38-20380_38-20237del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287477	CAGGATTG others(137): Show CAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAG GATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGG ATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCATGCGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(55): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18983.hp1 NA19004.hp1 NA19010.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0001c0031 a0002c0003 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0034 a0001c0001t0035 a0001c0001t0070 a0001c0001t0076 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0032 a0001c0002t0052 a0001c0002t0061 a0001c0002t0062 a0001c0004t0063 a0001c0008t0040 a0001c0009t0074 a0001c0014t0030 a0001c0014t0068 a0001c0017t0054 a0001c0026t0001 a0001c0029t0065 a0001c0031t0037 a0002c0003t0001 a0002c0003t0006 a0002c0003t0009 a0002c0003t0075 a0003c0005t0006 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0125 others(55): Show a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0003g0049 a0001c0001t0004g0046 a0001c0001t0006g0155 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0011g0047 a0001c0001t0016g0035 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0034g0075 a0001c0001t0035g0194 a0001c0001t0070g0100 a0001c0001t0076g0170 a0001c0001t0088g0090 a0001c0002t0001g0058 a0001c0002t0001g0116 a0001c0002t0001g0153 a0001c0002t0002g0135 a0001c0002t0002g0146 a0001c0002t0002g0180 a0001c0002t0003g0052 a0001c0002t0005g0186 a0001c0002t0008g0094 a0001c0002t0008g0098 a0001c0002t0015g0118 a0001c0002t0016g0015 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0032g0192 a0001c0002t0052g0199 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0004t0063g0016 a0001c0008t0040g0021 a0001c0009t0074g0117 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0017t0054g0134 a0001c0026t0001g0160 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0001g0142 a0002c0003t0006g0066 a0002c0003t0009g0078 a0002c0003t0075g0084 a0003c0005t0006g0053 a0003c0005t0009g0136 a0003c0011t0001g0185	58	210	0.2762	-144	c.438 others(19): Show c.438+43373_438+43516del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287568	GCATCCAG others(137): Show GCATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCATGCGGGC ATCGAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCA TCCAGGATTGCATTTACCGGGGCTGGAACCGCCCCGCCACGCGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0010 a0001c0006t0024 a0001c0004t0010 a0001c0006t0024	a0001c0004t0010g0174 a0001c0006t0024g0026 a0001c0004t0010g0174 a0001c0006t0024g0026	2	210	0.0095	-144	c.438 others(19): Show c.438+43552_438+43695del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar

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