Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MUC20_chr3_195715978_195738551	195725151	CCCATCCA others(506): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCA GTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC CCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCG ACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCC TCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0001 a0030c0032t0001	a0030c0032t0001g0044 a0030c0032t0001g0044	1	184	0.0054	-513	c.681 others(8): Show c.681_1193del	p.Ser others(13): Show p.Ser228_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	711/2493	681/2130	227/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725284	GTCACGGG others(506): Show GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGG CCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCG TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCAT CACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATC CAGTCATCACCCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00673.hp1 HG01071.hp1 HG01123.hp2 others(42): Show HG00673.hp1 HG01071.hp1 HG01123.hp2 HG01261.hp2 HG01516.hp1 HG01934.hp2 HG01993.hp2 HG02015.hp2 HG02080.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02738.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp2 HG03834.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0020 a0022 a0035	a0001c0001 a0001c0047 a0001c0061 others(5): Show a0001c0001 a0001c0047 a0001c0061 a0004c0042 a0006c0007 a0020c0020 a0022c0016 a0035c0048	a0001c0001t0001 a0001c0047t0001 a0001c0061t0001 others(5): Show a0001c0001t0001 a0001c0047t0001 a0001c0061t0001 a0004c0042t0001 a0006c0007t0001 a0020c0020t0001 a0022c0016t0001 a0035c0048t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0047t0001g0007 a0001c0061t0001g0056 a0004c0042t0001g0090 a0006c0007t0001g0008 a0006c0007t0001g0019 a0006c0007t0001g0041 a0006c0007t0001g0084 a0006c0007t0001g0085 a0020c0020t0001g0050 a0020c0020t0001g0082 a0022c0016t0001g0075 a0022c0016t0001g0076 a0035c0048t0001g0039	45	184	0.2446	-513	c.685 others(8): Show c.685_1197del	p.Arg others(13): Show p.Arg229_Ser399del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	715/2493	685/2130	229/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
NKAIN3_chr8_62243854_62989904	62870233	TAGATATC others(506): Show TAGATATCTATAGATATCTATATATATATCTATATATAGATATATATAAA TATCTATAGATATATATACATCTATATATAGAGAGATATATAAACTCTAT TTTGTATGTATATACACAAAATATATGCATATACTAAATATATACACTAT ATATGTACAATATACATTGTACATATATACAATATATGTACATATATACA ATATATACATATTATATTGTATATTGTATATACATATATATTGTATATAA TGTACAATAAGTACAATATATACAATATGTACGTATATATGTATATATGT ACAATATGTACATATATATACTATATATACTATATATACACCATATATAG TACATATATATACAACATATACATATACAATATATATACAAAATAAACTC TATTTTATATATATATCTATATCTAGATATATATAGATATCTATATATCT ATATCTCTCTATCTATATATCTATATATCTATATCTCTATATCTATATAT CTATATATATCTAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG02922.hp2 others(5): Show HG02258.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0027 others(4): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0027 a0001c0001t0049 a0001c0001t0050 a0001c0001t0088 a0001c0001t0102	a0001c0001t0009g0012 a0001c0001t0012g0010 a0001c0001t0012g0011 others(5): Show a0001c0001t0009g0012 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0027g0008 a0001c0001t0049g0007 a0001c0001t0050g0062 a0001c0001t0088g0076 a0001c0001t0102g0141	8	144	0.0556	-513	c.472 others(19): Show c.472-48218_472-47706del		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NPRL3_chr16_80386_143673	81684	ACACTGAC others(506): Show ACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTC CTGAATGCTCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0292 a0001c0002t0003g0292	1	309	0.0032	-513	c.45 others(11): Show c.4508_*5020del		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding					3701		chr16	TogoVar
NXN_chr17_794310_984776	941803	TCCTGGAT others(506): Show TCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAG CCATGAATTCACCAAACACCTCCCTGGATTTCCAGTGAACAAGATTCCAG GGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCCTGGAT TTACAGCGAACAAGATTCCAGGGCGCAGCCATGAATTCACCACACACCTC CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC ACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAAT TCACCAAACACCTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	205	0.0049	-513	c.360 others(19): Show c.360+37003_360+37515del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	941931	CGAACAAG others(506): Show CGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGA TTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCT TCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAG CCATGAATTCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCACACACCTT CCTGGATTTACAGT	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	129	0.0078	-513	c.360 others(19): Show c.360+36876_360+37388del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	942422	ACACACCT others(506): Show ACACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGA ATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCA GCCATGAACTCACATCACACCTTCCTGGATTTACGGTGAACAAGATTCCA GGGTGCAGCCATGAATTCACCAAACACCTTCCTGGATTTCCAGTGAACAA GATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAG CGAACAAGATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGGA TTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCT CCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG01433.hp2 others(20): Show HG00597.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG02132.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18984.hp2 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0029	a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0068 others(20): Show a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0117 a0001c0001t0003g0208 a0001c0001t0004g0016 a0001c0001t0004g0041 a0001c0001t0004g0096 a0001c0001t0016g0001 a0001c0001t0021g0019 a0001c0001t0029g0134	23	233	0.0987	-513	c.360 others(19): Show c.360+36384_360+36896del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289459	CTCTGCCC others(506): Show CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0001 a0027c0027t0001	a0027c0027t0001g0022 a0027c0027t0001g0022	1	288	0.0035	-513	c.166 others(17): Show c.1663-806_1663-294del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202003	CAGCCCAG others(506): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCC AGTACCCAGCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	377	0.0027	-513	c.13 others(11): Show c.1328_*1840del		TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding					1504		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202003	CAGCCCAG others(506): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAG TACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCC AGTACCCAGCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	374	0.0027	-513	c.41 others(11): Show c.4157_*4669del		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding					4068		chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291917	CCTCCGTG others(506): Show CCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCC ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCT CCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03710.hp1 HG01175.hp2 HG03710.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0014 a0001c0010t0002g0014	2	275	0.0073	-513	c.121 others(16): Show c.1214+69_1214+581del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393720	GGGGAAGG others(506): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAG TCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	343	0.0029	-513	c.181 others(21): Show c.1811-13930_1811-13418del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ABCC5_chr3_183914934_184022884	183955624	TGTTACAT others(505): Show TGTTACATGCAGATCCGTGTGTATATCACATCGGTTACATGCAGATCTGT GTATATATCACATCGGTTACATGCAGATCCGTGTGTAAATCACATCAGTT ACATGCAGATCCATGTGTAAATCACATCAGTTACATGCAGATCTGTGTGT ATATTACATCTGTTACATGCAGATCCATGTGTATATCACATCAGTTACAT GCAGCTCCGTGTGTATATCACATCGGTTACATGCAGATCCGTGTGTATAT TACATCTGTTATATGCAGATCCATGTGTATATCACATCAGTTATATGCAG CTCCGTCTGTTTATCACATCGGTTACAGGCAGATCCGTGTGTATATCACA TCGGTTACATGCAGCTCCATGTGTATATCACATCGGTTACATGTTCATCC ATGTGTATATCACATCAGTTACATGCAGATCCGTGTGTATATCACATCGG TTACATGCAGATCCGTGTGTATATCACATCTGTTACATGCAGCTCCGTGT GTATATCACATCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(103): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03017.hp1 HG03209.hp2 HG03540.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0002 a0001c0013 a0001c0023 others(4): Show a0001c0002 a0001c0013 a0001c0023 a0002c0015 a0003c0011 a0004c0012 a0008c0014	a0001c0002t0001 a0001c0002t0008 a0001c0013t0003 others(5): Show a0001c0002t0001 a0001c0002t0008 a0001c0013t0003 a0001c0023t0001 a0002c0015t0001 a0003c0011t0001 a0004c0012t0001 a0008c0014t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(98): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0152 a0001c0002t0001g0254 a0001c0002t0001g0258 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0289 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0008g0263 a0001c0002t0008g0264 a0001c0002t0008g0265 a0001c0002t0008g0266 a0001c0013t0003g0092 a0001c0023t0001g0142 a0002c0015t0001g0045 a0003c0011t0001g0078 a0004c0012t0001g0101 a0008c0014t0001g0109	106	370	0.2865	-512	c.248 others(19): Show c.2483-2866_2483-2355del		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
INTS8_chr8_94818287_94886746	94869179	TCATGTTG others(505): Show TCATGTTGGTCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCTGCACA CCTCAGCCTCCCAAAGTGCTGGGATTAACAGGCGTGAGCCACCACGGCCA GCCCAGTTTTGCATTTTTTAATTGGTGGTTTCAGTGGTTGTGTTTTTGTT TTTTGGGGGTTTTTTTGAGACAAAGTCTCACTCTGTTACCCAAGCTGGAG TGCAATGGTACGATCTCGGCTTACTGCAACCTCCACCTTCCAGGTTTGAG CAATTACTACAGGCGTGTGCCACCACACCTGGCTAATTTTTATTTTTATT TATTTATTTACTTATTTTTATTTTTATTTTTTGAGACGGAGTCTTGCTCT GTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCC GCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGT GTTACAGGCACGTGCCACCAAACACAGCTAATTTTTGTATTTTTAGTAGA GATGAGGTTTCAC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	308	0.0032	-512	c.241 others(19): Show c.2414+1862_2415-2174del		INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr8	TogoVar
KRT77_chr12_52684626_52708524	52707241	CCAACCCC others(505): Show CCAACCCCTCCCTGTGAACCCACCTCTCTCTCCGGCTGCACCACTCACTT TCAACCCCACCTCCTCCTCATGAAGAATACACATAATTAACCCCTTCGCA TCTGTCTCTACTGCCACCTAAACAAACAGGAAGCTCCTTGCTGTTGGGAC AAGACTTCATGGACCAGGAGCCCCTTTCTTCCTGCAACTGCTGGGCAGAG TGGGCCAATAACAAAGGCCTTCATGACTGAGCTAAAGTAAAGAGACGTGG ACAGCTTAGAGAACCAAGAGCTTGGGCCCCACAATTAAGTGCCCCTGGAG TTAAAGCCCAGCTCCCCCCATGTACCAGTTTTATGATTGAACTAATCACT GAGTTCCCTGAACGCTATTCATCTGACCCTTAAATAGAGCACTTGAAGAC AACAAATATTTTAAAAGGCTTGCTCTTACGAGAGGTGTTATTGTGTGGCT GTGGCTACAGCATTGAGACCTATGAATGCGATGAGAGTTTTTAGAAAGAC AGGCAGCTGGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0036 a0004c0004t0007g0036	1	418	0.0024	-512	c.-43 others(11): Show c.-4319_-3808del		KRT77	ENSG00000189182.10	transcript	ENST00000341809.8	protein_coding					3718		chr12	TogoVar
NUCB1_chr19_48895312_48928372	48898820	AAGAGACC others(505): Show AAGAGACCAGAGACCGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGGGGTCAGGAGATCTAGACCA TCCTGGCTAACATGGTGAATCCCCGTCTCTACTAAAAAAAAATATATATA TATACACAAAAAAATTAGCCGGGCGTTGTGGCGGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTCGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGTGTGACA GAGGTAGACACCGTCTCAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGCGG GAGACCAGAGACCTCGCGGCCTCACTGTACACATCTCGCTTACAAGAAAC TTAAAAGAGGCGGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCGGAGACGGGGAGGCAAGATTGCTTGAGTCCAGGAGATCCAGATCC AGACCAGCAACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	396	0.0025	-512	c.-15 others(11): Show c.-1563_-1052del		NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding					1491		chr19	TogoVar
PCGF3_chr4_700832_775089	744702	GGGGGTCG others(505): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 NA18747.hp2 HG00621.hp1 HG01123.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0029 a0001c0001t0003 a0001c0003t0029	a0001c0001t0003g0038 a0001c0001t0003g0065 a0001c0003t0029g0128 a0001c0001t0003g0038 a0001c0001t0003g0065 a0001c0003t0029g0128	3	343	0.0087	-512	c.462 others(14): Show c.462+36_462+547del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745012	TCCGTGGA others(505): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	219	0.0046	-512	c.462 others(15): Show c.462+356_462+867del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745952	CCCCGGGG others(505): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	336	0.0030	-512	c.462 others(17): Show c.462+1328_462+1839del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPRH_chr19_55176247_55214501	55207807	TTCCTGGG others(505): Show TTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAG GGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTG GGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGG CCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAG GGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTG GACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTGGAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp1 HG02897.hp2 others(6): Show HG01109.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0025	a0001c0014 a0002c0005 a0003c0007 others(3): Show a0001c0014 a0002c0005 a0003c0007 a0005c0006 a0007c0011 a0025c0065	a0001c0014t0001 a0002c0005t0002 a0003c0007t0003 others(3): Show a0001c0014t0001 a0002c0005t0002 a0003c0007t0003 a0005c0006t0001 a0007c0011t0001 a0025c0065t0001	a0001c0014t0001g0288 a0001c0014t0001g0293 a0002c0005t0002g0034 others(5): Show a0001c0014t0001g0288 a0001c0014t0001g0293 a0002c0005t0002g0034 a0003c0007t0003g0289 a0005c0006t0001g0287 a0005c0006t0001g0290 a0007c0011t0001g0292 a0025c0065t0001g0291	9	374	0.0241	-512	c.51+ others(14): Show c.51+1064_52-609del		PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19						chr19	TogoVar
PXDN_chr2_1626887_1749515	1702965	AAAGGCGG others(505): Show AAAGGCGGGACAACTCCAGGTGAAGGGGGGGACAACTCCAGGTGAAGGGG GGACAGCTCCAGGTGAAGGGGGGGCAGCTCCAGGTGAAGGGAGGGCAGCT CCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGACAACTCCAGGTGAA GGGGGGACAGCTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGAGGGAC AACTCCAGGTGAAGCGGGGGACAACTCCAGGTGAAAGAGGGACAACTCCA GGTGAAGGGGGGGGCAACTCCTGGTGAAGGGGGGGCAACTCCAGGTGAAG GTAGGGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGG GCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGGACAGCTC CAGGTGAAGTGGGGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGA AGGAGGGACAACTCCAGGTGAAGCGGGGGACAACTCCCGGTGAAGGAGAG ACAACTCCAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(155): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0016 a0001c0020 a0001c0024 a0001c0026 a0001c0028 a0001c0030 a0001c0033 a0001c0034 a0001c0037 a0001c0040 a0001c0044 a0002c0009 a0003c0018 a0003c0042 a0008c0029 a0010c0043 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0018 a0001c0004t0004 a0001c0005t0004 a0001c0005t0007 a0001c0006t0008 a0001c0007t0006 a0001c0007t0029 a0001c0008t0002 a0001c0010t0008 a0001c0011t0004 a0001c0013t0002 a0001c0016t0005 a0001c0020t0003 a0001c0024t0004 a0001c0026t0001 a0001c0028t0001 a0001c0030t0001 a0001c0033t0001 a0001c0034t0003 a0001c0037t0006 a0001c0040t0030 a0001c0044t0025 a0002c0009t0011 a0002c0009t0026 a0003c0018t0034 a0003c0042t0005 a0008c0029t0001 a0010c0043t0006 a0012c0021t0002	a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0052 others(155): Show a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0072 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0008 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0005g0175 a0001c0001t0005g0212 a0001c0001t0009g0178 a0001c0001t0010g0267 a0001c0001t0014g0152 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0002g0082 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0051 a0001c0002t0003g0054 a0001c0002t0003g0058 a0001c0002t0003g0097 a0001c0002t0003g0112 a0001c0002t0003g0169 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0002t0023g0063 a0001c0002t0032g0289 a0001c0003t0001g0022 a0001c0003t0001g0041 a0001c0003t0001g0086 a0001c0003t0001g0264 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0002 a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0023 a0001c0003t0002g0033 a0001c0003t0002g0038 a0001c0003t0002g0080 a0001c0003t0002g0236 a0001c0003t0002g0280 a0001c0003t0002g0317 a0001c0003t0008g0305 a0001c0003t0012g0255 a0001c0003t0018g0303 a0001c0004t0004g0029 a0001c0004t0004g0151 a0001c0004t0004g0153 a0001c0004t0004g0164 a0001c0004t0004g0205 a0001c0004t0004g0207 a0001c0004t0004g0245 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0005t0004g0248 a0001c0005t0007g0079 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0161 a0001c0005t0007g0204 a0001c0005t0007g0206 a0001c0006t0008g0315 a0001c0007t0006g0233 a0001c0007t0006g0234 a0001c0007t0006g0263 a0001c0007t0006g0321 a0001c0007t0029g0156 a0001c0008t0002g0298 a0001c0010t0008g0016 a0001c0010t0008g0244 a0001c0010t0008g0309 a0001c0011t0004g0003 a0001c0011t0004g0042 a0001c0011t0004g0043 a0001c0013t0002g0307 a0001c0016t0005g0001 a0001c0020t0003g0015 a0001c0024t0004g0017 a0001c0026t0001g0261 a0001c0028t0001g0150 a0001c0030t0001g0308 a0001c0033t0001g0216 a0001c0034t0003g0032 a0001c0037t0006g0285 a0001c0040t0030g0088 a0001c0044t0025g0210 a0002c0009t0011g0149 a0002c0009t0011g0219 a0002c0009t0026g0237 a0003c0018t0034g0247 a0003c0042t0005g0220 a0008c0029t0001g0019 a0010c0043t0006g0062 a0012c0021t0002g0251	158	320	0.4938	-512	c.201 others(18): Show c.201-10343_201-9832del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
SDHA_chr5_213320_262082	260465	CAGCATTA others(505): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGC CAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGA GCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTC CGCCTCCCGTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01256.hp1 others(3): Show HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0099	6	226	0.0265	-512	c.40 others(11): Show c.4046_*4557del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3384		chr5	TogoVar
TCF3_chr19_1604292_1657615	1628392	GGGGTGAG others(505): Show GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	349	0.0029	-512	c.299 others(16): Show c.299-1478_299-967del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628424	CAGGGGGT others(505): Show CAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCA	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0144 a0001c0003t0030g0144	1	274	0.0036	-512	c.299 others(16): Show c.299-1510_299-999del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
THEG_chr19_356747_381026	360624	ATCAGCTG others(505): Show ATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGG CCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCC GACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTTTGACTGTGGCT GTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTG GTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0030 a0001c0023t0030	a0001c0023t0030g0126 a0001c0023t0030g0126	1	345	0.0029	-512	c.10 others(11): Show c.1064_*1575del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1122		chr19	TogoVar
THEG_chr19_356747_381026	361011	AGCTGGTT others(505): Show AGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCGTCAGCTGGTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTT TGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGT GGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTG GCTGTCGTTCCTACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGG CTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTC AGCAGGAGCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	333	0.0030	-512	c.67 others(10): Show c.677_*1188del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					735		chr19	TogoVar
THEG_chr19_356747_381026	361272	GTTTGACT others(505): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC TACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGCT TTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGCAG GAGCGTCGGCTGC	G G	splice_region_variant splice_region_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0299 a0001c0001t0033g0299	1	345	0.0029	-512	c.41 others(9): Show c.416_*927del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8						chr19	TogoVar
CENPU_chr4_184689085_184739096	184706866	ACTGCAGC others(504): Show ACTGCAGCAACTCAGACCTCTGTCCCTGTGTCCTTACTACCCACTGGGTG GTAAGTTCTTGATATAAGAAATGATTTAGAAGGGGACAATGCCATTTTCC CTAAAACATCAGAAGTCTATAATAAGCTTCCTATAAGAGATTTGTGAATA GGTAAAGGATAACACAAGCAAGATGGTCTTGGGTGTGTTAACAGAACTGT CCTAGTTTTAACAGGAAACTGGCTCTGGAATATAAAGAAGAGTAAAACAG GCACTTCTCACAATGATAATGATGAGTTGGCATGACAGGCTGGCTCCTTT CCCCAAGCTCACCCAGAACTACAGAGGGAATACCAAGAAAATGGAGAAAG CTGTGAAAACCCTGAGGGGAAGGTCATGTAGAGAGAATAACTGCTGTAAG GAGTGGCGCTGTGGCCAGGGCAGGAATAGAGAGCTGCAGGAAACTGACTC CTGCCTCTTCCCATCACCGATCTCATCAATAGTGTGCCTGCTCACCCCCG CTCCCCTGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02809.hp1 HG02896.hp1 others(3): Show HG02056.hp1 HG02809.hp1 HG02896.hp1 HG03139.hp1 HG03579.hp2 NA18906.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0007c0009t0001g0012	6	356	0.0169	-511	c.797 others(17): Show c.797+2695_797+3205del		CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	8/12						chr4	TogoVar
HPR_chr16_72058226_72082246	72059077	ACTTCTCC others(504): Show ACTTCTCCTTTGGCTCACTTCTTGCCTTTTGTTTCAGGAGTGTACACCTT AAACAATGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTG AATGTGAAGCAGGTGGGTGCTGAGCACTTAAGAGAGCAGGCAGGCGTCCA GCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAGCA CACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGAGA GACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTGTT CATTAGGGCCTGAAGGGCACTGGCTGAATCCATTGTCTACATCGCCCACA GATTAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAGAGCCCTGGGTCT AAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAATCT TAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTGCT TCTCGTTATTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02965.hp2 others(4): Show HG02055.hp2 HG02717.hp2 HG02965.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0004 a0003c0003t0001g0018 a0003c0003t0001g0025 others(2): Show a0002c0002t0001g0004 a0003c0003t0001g0018 a0003c0003t0001g0025 a0003c0003t0001g0088 a0003c0003t0001g0089	7	410	0.0171	-511	c.-41 others(11): Show c.-4178_-3668del		HPR	ENSG00000261701.9	transcript	ENST00000540303.7	protein_coding					4148		chr16	TogoVar
IL3RA_chrX_1331785_1387689	1366413	AGCGGGGT others(504): Show AGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGC GCGGGGTGAGCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTG CCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGC GCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGG GTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAG CGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGG TGAGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	107	0.0093	-511	c.874 others(17): Show c.874+1170_874+1680del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
LYST_chr1_235656041_235871906	235709445	ATTTTGAA others(504): Show ATTTTGAATAAGAAACACCACTGCTCATCTACTTATGTACCTACTAATAG GGCTATGTGAGCTAATGCTATCATAATTAAATTTGAGATCTTTCAACTTT ATCCTTCTACCACTTTACAACATATTGAAGAAAAGGAGAAAACCATTGCC TACTAATTCCAATATTCTGACTATTCACATCTTCAAGGGCATTAAGTACT TAAATATCTATTCAATTGTAAACCTGATTAGAATCAAACTAAGGCTTTGT AGAAGCATTTCTAAACTATTGGTATTAACATTTTAATAAATTTAAGATTA TATTTAGTAAATATTAGTATTCTATAGTTTAAAAACTCAACTAATATAAA GTATACACATTGTTAGAATGAATTGCCATAGTCTATTAATTTTATAAGTC TATGGGTCTGTTCTGACTTCCTTTCTACTAAGCATTCCTGTAGATAGCAA AATTATCCCAACACAGGAAATAAGAGGGTTCTTCTGTGATGTAAATGAGC TAATATCTAATT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01884.hp1 others(15): Show HG01106.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0006 a0015 a0016	a0002c0027 a0002c0036 a0003c0008 others(8): Show a0002c0027 a0002c0036 a0003c0008 a0003c0009 a0005c0014 a0005c0018 a0005c0019 a0006c0017 a0006c0034 a0015c0035 a0016c0020	a0002c0027t0001 a0002c0036t0001 a0003c0008t0003 others(10): Show a0002c0027t0001 a0002c0036t0001 a0003c0008t0003 a0003c0008t0006 a0003c0009t0002 a0003c0009t0003 a0005c0014t0001 a0005c0018t0001 a0005c0019t0001 a0006c0017t0001 a0006c0034t0001 a0015c0035t0011 a0016c0020t0001	a0002c0027t0001g0124 a0002c0036t0001g0125 a0003c0008t0003g0024 others(15): Show a0002c0027t0001g0124 a0002c0036t0001g0125 a0003c0008t0003g0024 a0003c0008t0003g0025 a0003c0008t0003g0084 a0003c0008t0006g0005 a0003c0008t0006g0006 a0003c0009t0002g0085 a0003c0009t0003g0086 a0003c0009t0003g0087 a0005c0014t0001g0099 a0005c0014t0001g0100 a0005c0018t0001g0107 a0005c0019t0001g0105 a0006c0017t0001g0097 a0006c0034t0001g0096 a0015c0035t0011g0172 a0016c0020t0001g0014	18	234	0.0769	-511	c.992 others(17): Show c.9926-648_9926-138del		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	43/52						chr1	TogoVar
MAN1B1_chr9_137081985_137114183	137102288	CTGTTGCA others(504): Show CTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGG CGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAG TGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCA CACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTG CAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAG GTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGC TGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCAC GCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGC AGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGC AGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTT ACACACATTCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0002 a0017c0027t0002	a0017c0027t0002g0225 a0017c0027t0002g0225	1	404	0.0025	-511	c.125 others(18): Show c.1254+617_1254+1127del		MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12						chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(504): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTT GTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02148.hp2 HG03041.hp1 HG02083.hp2 HG02148.hp2 HG03041.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0003 a0005c0005 a0013c0176 a0001c0003 a0005c0005 a0013c0176	a0001c0003t0002 a0005c0005t0001 a0013c0176t0001 a0001c0003t0002 a0005c0005t0001 a0013c0176t0001	a0001c0003t0002g0361 a0005c0005t0001g0212 a0013c0176t0001g0053 a0001c0003t0002g0361 a0005c0005t0001g0212 a0013c0176t0001g0053	3	359	0.0084	-511	c.164 others(17): Show c.1644+223_1644+733del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
PCGF3_chr4_700832_775089	745212	CCCGGGGT others(504): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0028g0059 a0001c0001t0028g0060	2	364	0.0055	-511	c.462 others(16): Show c.462+527_462+1037del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745956	GGGGTCGC others(504): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0120 a0001c0004t0020g0120	1	364	0.0027	-511	c.462 others(17): Show c.462+1272_462+1782del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746009	CCCGGGGG others(504): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0172 a0001c0001t0013g0172	1	352	0.0028	-511	c.462 others(17): Show c.462+1324_462+1834del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746069	CGGGGTCG others(504): Show CGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18970.hp2 NA19005.hp2 others(1): Show NA18945.hp1 NA18970.hp2 NA19005.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0003g0160 others(1): Show a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0003g0160 a0001c0001t0003g0163	4	316	0.0127	-511	c.462 others(17): Show c.462+1406_462+1916del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746465	CCCGGGGT others(504): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	356	0.0028	-511	c.462 others(17): Show c.462+1780_462+2290del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPRS_chr19_5200508_5345812	5267440	TGAGGTCA others(504): Show TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCT CTACTAAAAATACAGAAATTAGCCAGGCATGGTGGCGGACGCCTGTAATC CCAGTTCCTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGTG GAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACA GAGCAAGACTGTCTCAAAAAAAAAAAAAAAAGAGATTAGGAAACAGCCAC GTAGGGCAGACTAATAACCGTGCCCCCCCGCCCCCCCAACTCCACTCCAA CGGACAAGTGACAAAAAAGTGACAAATCGCAGTGCTGTTAAGACCAAGAA ATAGGCAGCTCCTCTGCATCTGGTAGGAATGCTGGAGTGGAGGGGGTAAA GGGCCGCAAAAACAGCCCTGTAGCTGTATTTATTAATAAAGTTTTATCAG CCGGGCACAGTGGGTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGG CAGGTGGATCAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0167 a0001c0003t0004g0167	1	274	0.0036	-511	c.380 others(17): Show c.380-2755_380-2245del		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37						chr19	TogoVar
RPH3AL_chr17_207389_357807	300107	CGCAGAAT others(504): Show CGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCTGC AGAATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGA ATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGAATC TCTTACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCT CACCCGGTCTAGCAGGGGCTGGCCCATAGGCCTGCAGAATCTCTCACCCG CTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTC TAGAAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAG AAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTTACCCGCTCTAGCAG GGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGG CTGGCCCATAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCC CAGCCTAGACCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	101	0.0099	-511	c.352 others(19): Show c.352-18764_352-18254del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
TRIM6_chr11_5591637_5617952	5602357	GGCTTGAA others(504): Show GGCTTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGAGATCACGCCACTG CACTCCAGCCTGGGCGACAGAGCAAGACCCCCTAATGAGGTGAATATGTG GAGAGTGATTGTATGGTGGCTGTGCTCTAAATAGACTAGTCAGAGCAGAC CCTTCTGATAAGGGAATAGGTAGGAAGCTAGTAAGTCATGCAGATAGCAG AGTAAAGGGTCATCTTTACATCACGAACGACAAATGCAAAAATCCTGAGG CAGCAGTGTGTTTTAGGTGCTTTTAACATTGAGGATATGTTTTGGGTGAG AAAAGGTCACACAGTCTCCAGGTGCGGTGGCTCATGCCTGTAATTCCAGC ACTGTGAGAGGCCAAGGCAGGAGCATCACTTAAGGTCAGGAGTTCAAGAC CACCCTGGCTAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAACT AGCCAGGTGTTGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	478	0.0021	-511	c.18- others(13): Show c.18-879_18-369del		TRIM6	ENSG00000121236.21	transcript	ENST00000380097.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF516_chr18_76352682_76500242	76392864	AGGCAGGT others(504): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18995.hp2 NA18983.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0001t0014g0054 a0001c0001t0014g0055	2	329	0.0061	-511	c.181 others(21): Show c.1811-13072_1811-12562del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ADARB2_chr10_1172313_1742525	1460389	AAACCTGC others(503): Show AAACCTGCCTGTGACCTGAATTTACCTGCGTAACAAACCTGCCTGTGACC TGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTT ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGA CCTGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCG TTACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAGCAAACCTGCCTGT GACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTG TGTAACAAACCTGCCTGTGACCTGAATTTACCTGTGTAGCAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACC TGTGTAGCAAACCTGTCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGC CTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTA CCTGCGTTACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	105	0.0095	-510	c.101 others(19): Show c.101-81739_101-81230del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ANO2_chr12_5557655_5950259	5932016	CAGACGAG others(503): Show CAGACGAGTGAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAG TGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACTAGT AAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACG AGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTA ATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAA GGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAG GAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAAA AAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGG AAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGA AAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAA GGAAAGAAGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	149	0.0067	-510	c.23- others(15): Show c.23-9722_23-9213del		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24						chr12	TogoVar
ARMC7_chr17_75104969_75135272	75111633	GAGGCTGA others(503): Show GAGGCTGAGGTGGGAGGATTGCTTAAGCCTGGGAGGTCAAGGCTGCAGTG AGCTGGGATTGGGCCACTGTACTCCAGCCTGGGTGACAAAACGAGAATCT GTCTCAAAAACAAAAATAACTCATATTTAGTGTTTTCATATCAAGAGAAG CAGAGATGGCTTGCAGTCTGTAACTTATGGCTTCTGTAGTTGTTATGATC TTAAGACCTATTGAGTTATTCACTGGGTAGATATTTATTGCGCGTGTACC GTATATGCAAGCTACTGCTCTAAATGCTGGAGTATGGTGAACAGCTTAGG GAAAGGTCTTTGCCCCTCAGGAGCTTACATTCTAGTAGGGGGGACAGGTG GTTAGCAAACAAAAAAGATGATGCTCAGAAGGAAGTAAATGGGGTGATGA GAGACAGCAGTGGAAGGTGGGGGTTACTTCAGTTTTGGCCATCATGAGAA AGGCATTTTAGCCGGGACACAGCATGGGCAAAGGCCTTAAAACAGGAAGG AGCCAGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02258.hp2 others(5): Show HG01884.hp1 HG02109.hp1 HG02258.hp2 HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0004 a0001c0001t0011 a0002c0002t0004	a0001c0001t0011g0046 a0001c0001t0011g0047 a0002c0002t0004g0010 others(3): Show a0001c0001t0011g0046 a0001c0001t0011g0047 a0002c0002t0004g0010 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0050	8	400	0.0200	-510	c.235 others(17): Show c.235+1035_235+1544del		ARMC7	ENSG00000125449.7	transcript	ENST00000245543.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
BRF1_chr14_105204286_105306001	105240366	ACAGCCCT others(503): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	52	0.0192	-510	c.694 others(15): Show c.694+389_694+898del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
C1orf159_chr1_1076823_1121089	1078715	AGGCTGAG others(503): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02818.hp2 others(9): Show HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0007 a0001c0002 a0001c0005 a0003c0007	a0001c0002t0004 a0001c0005t0010 a0003c0007t0004 a0001c0002t0004 a0001c0005t0010 a0003c0007t0004	a0001c0002t0004g0006 a0001c0002t0004g0010 a0001c0002t0004g0071 others(8): Show a0001c0002t0004g0006 a0001c0002t0004g0010 a0001c0002t0004g0071 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0288 a0001c0002t0004g0295 a0001c0002t0004g0298 a0001c0002t0004g0305 a0001c0005t0010g0226 a0003c0007t0004g0291	12	324	0.0370	-510	c.36 others(11): Show c.3668_*4177del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3107		chr1	TogoVar
CFAP46_chr10_132803392_132947570	132822739	GTGATGTG others(503): Show GTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTGTG TGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTGC TGATGTGTGCACTGTGTGCTGTGTGCGGTGATGTGTGCTGTGTGTGCGCT GATGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGC ACTGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTG CTGTGTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGCGCT GATGTGTGCTGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGT GTGCTTTGTATGTGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTCTG TGTGCTGATGTGTGCTGTGTGAGTGATGTGTGCTGTCTGTGCGCTGTGTG CTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTGTGTGC TGTGTGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0057 a0057	a0057c0104 a0057c0104	a0057c0104t0001 a0057c0104t0001	a0057c0104t0001g0236 a0057c0104t0001g0236	1	244	0.0041	-510	c.711 others(19): Show c.7118-8335_7118-7826del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CLUL1_chr18_591988_655182	633951	CTGATTCT others(503): Show CTGATTCTTTGGAAAGAAATTTAGAACTCACATCTAACAATTTTTTAGGG TTTCTTTAGTATTCTGGACAGAGGACAAAATCTCATTCTCACAAGCATAG TGGATTCATTTGCTTTCCTCCAAGCACTTTTTTGCAGGCTCATTTCCATC TGGGGGCGTTCAATGTAGGTTTATAAACTGGTGTTTTGTTTGTTTGTTTT ATGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGGCACAATCTCGG CTCACTGCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCC TGCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTT TTTTGTATTTTTAGTAGGGACGAGGGTTTCACCATATTGGCCAGGCTGGT CTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAACCACCGTGCCTGGCCTGGTTTATAAACTTTTATT ATTCCAAAGTA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	412	0.0024	-510	c.994 others(16): Show c.994+519_994+1028del		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241807296	TCCCTCCC others(503): Show TCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGG ACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	312	0.0032	-510	c.31 others(11): Show c.3131_*3640del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3010		chr2	TogoVar

Search by Variant

Search

Search Results