Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C7orf50_chr7_992006_1143247	1116477	AGGACCAG others(493): Show AGGACCAGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCA GTTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGG ATGATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGTCCA CGCAGGATGATGACATCACTACAGCTCTACGGACAGGCTTCCATCACCAA CGCCCATGCAGGATGATGACATCACTACAGATCTAGGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATGACTGCAGCTCTACGGACCGGC TTCCATCACCGACGTCCACGCAGGATGATGACATCACTGCAGTTCTAGGA CCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGTTC T	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp2 NA18906.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0293 a0001c0001t0007g0150 a0001c0001t0008g0151 a0001c0001t0003g0293 a0001c0001t0007g0150 a0001c0001t0008g0151	3	326	0.0092	-500	c.129 others(19): Show c.129+10280_129+10779del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CD38_chr4_15773328_15858232	15791262	CCCCTCTG others(493): Show CCCCTCTGCCCGGCCAGCCACCCCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAG CCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGTCCGCCCGTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp1 others(33): Show HG00099.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01168.hp2 HG01257.hp1 HG01358.hp2 HG01517.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02630.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18943.hp2 NA18954.hp1 NA18966.hp2 NA18968.hp1 NA19062.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073	a0001c0001t0002g0008 a0001c0001t0002g0181 a0001c0001t0002g0188 others(32): Show a0001c0001t0002g0008 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0003g0198 a0001c0001t0007g0182 a0001c0001t0014g0214 a0001c0001t0015g0193 a0001c0001t0017g0186 a0001c0001t0018g0205 a0001c0001t0019g0184 a0001c0001t0024g0197 a0001c0001t0028g0213 a0001c0001t0038g0203 a0001c0001t0040g0204 a0001c0001t0045g0187 a0001c0001t0047g0185 a0001c0001t0068g0196 a0001c0001t0071g0180 a0001c0001t0072g0183 a0001c0001t0073g0195	36	344	0.1047	-500	c.233 others(19): Show c.233+12634_233+13133del	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDH4_chr20_61247261_61945617	61783771	CGGGACAG others(493): Show CGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT TGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT T	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0004 a0001c0006t0021g0004	1	106	0.0094	-500	c.576 others(19): Show c.576+10674_576+11173del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CROCC2_chr2_240901336_240998311	240907825	CCTCTACC others(493): Show CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA G	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01070.hp1 others(61): Show HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01255.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18966.hp1 NA18979.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0024 a0034 a0037 a0038 a0047 a0056 a0057	a0001c0001 a0001c0020 a0001c0060 others(22): Show a0001c0001 a0001c0020 a0001c0060 a0001c0089 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0009c0010 a0011c0080 a0012c0013 a0013c0023 a0013c0076 a0014c0014 a0016c0092 a0017c0062 a0019c0015 a0024c0077 a0024c0091 a0034c0083 a0037c0088 a0038c0082 a0047c0090 a0056c0032 a0057c0031	a0001c0001t0001 a0001c0001t0003 a0001c0020t0001 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0020t0001 a0001c0060t0001 a0001c0089t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0005c0005t0003 a0009c0010t0001 a0011c0080t0001 a0012c0013t0001 a0013c0023t0001 a0013c0023t0008 a0013c0076t0001 a0014c0014t0001 a0016c0092t0001 a0017c0062t0001 a0019c0015t0001 a0024c0077t0001 a0024c0091t0001 a0034c0083t0001 a0037c0088t0003 a0038c0082t0001 a0047c0090t0001 a0056c0032t0001 a0057c0031t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(59): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0003g0003 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0159 a0001c0020t0001g0129 a0001c0060t0001g0150 a0001c0089t0001g0139 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0167 a0003c0003t0001g0137 a0003c0003t0001g0149 a0003c0003t0001g0158 a0004c0004t0001g0063 a0004c0004t0001g0109 a0004c0004t0001g0118 a0004c0004t0001g0119 a0004c0004t0001g0157 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0138 a0005c0005t0003g0004 a0005c0005t0003g0160 a0009c0010t0001g0115 a0011c0080t0001g0142 a0012c0013t0001g0106 a0012c0013t0001g0121 a0012c0013t0001g0122 a0012c0013t0001g0123 a0012c0013t0001g0124 a0013c0023t0001g0114 a0013c0023t0008g0110 a0013c0076t0001g0105 a0014c0014t0001g0134 a0014c0014t0001g0135 a0016c0092t0001g0113 a0017c0062t0001g0161 a0019c0015t0001g0108 a0024c0077t0001g0111 a0024c0091t0001g0133 a0034c0083t0001g0136 a0037c0088t0003g0148 a0038c0082t0001g0147 a0047c0090t0001g0112 a0056c0032t0001g0104 a0057c0031t0001g0107	64	350	0.1829	-500	c.78+ others(15): Show c.78+1327_78+1826del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	GGAATGAG others(493): Show GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0133 a0001c0002t0133	a0001c0002t0133g0297 a0001c0002t0133g0297	1	386	0.0026	-500	c.198 others(17): Show c.198+2182_199-1929del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931609	GGAATGAG others(493): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0041 a0001c0008t0041	a0001c0008t0041g0371 a0001c0008t0041g0371	1	386	0.0026	-500	c.198 others(17): Show c.198+2102_199-2009del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931681	CGAGGAGA others(493): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0205 a0001c0004t0026g0205	1	386	0.0026	-500	c.198 others(17): Show c.198+2030_199-2081del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931821	TGAGGAGA others(493): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG03209.hp1 HG01109.hp2 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0108 a0001c0006t0040 a0001c0006t0108	a0001c0006t0040g0126 a0001c0006t0040g0127 a0001c0006t0108g0128 a0001c0006t0040g0126 a0001c0006t0040g0127 a0001c0006t0108g0128	3	386	0.0078	-500	c.198 others(17): Show c.198+1890_199-2221del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933309	GGAATGAG others(493): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18986.hp2 HG01952.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0043 a0001c0002t0001 a0001c0002t0043	a0001c0002t0001g0231 a0001c0002t0043g0232 a0001c0002t0001g0231 a0001c0002t0043g0232	2	386	0.0052	-500	c.198 others(15): Show c.198+402_198+901del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933429	AGAATGAG others(493): Show AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTG AGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01993.hp1 others(13): Show HG00609.hp2 HG01070.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02738.hp1 NA18948.hp2 NA18966.hp2 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19058.hp2 NA19070.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0049 a0001c0002t0051 a0001c0002t0134 a0001c0002t0139 a0002c0001t0010 a0002c0001t0015 a0002c0001t0030	a0001c0002t0001g0270 a0001c0002t0001g0277 a0001c0002t0001g0293 others(13): Show a0001c0002t0001g0270 a0001c0002t0001g0277 a0001c0002t0001g0293 a0001c0002t0003g0258 a0001c0002t0009g0256 a0001c0002t0009g0257 a0001c0002t0009g0271 a0001c0002t0009g0292 a0001c0002t0049g0272 a0001c0002t0051g0260 a0001c0002t0134g0291 a0001c0002t0139g0262 a0002c0001t0010g0269 a0002c0001t0010g0290 a0002c0001t0015g0286 a0002c0001t0030g0313	16	386	0.0415	-500	c.198 others(15): Show c.198+282_198+781del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DIP2C_chr10_269201_694668	447770	CGTCTATA others(493): Show CGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CGTCGATACTCAGGATCACACACAGTGCGGCAGCAGGACCCACTCATTCC CATTAATAATCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC TGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCAATCACCCC CGTTGATATTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CACTGATGCTCAGGATCACACACAGTAGGGCAGCAGGACCCACTCATCCC CGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC CATCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CGTCGATACTCAGGATCACACACAGTGCGGCAGCAGGACCCACTCATTCC CGTCAATAATCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0082 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0011 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	-500	c.269 others(17): Show c.269-7274_269-6775del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DPH7_chr9_137549444_137583925	137565927	CTCTGTCT others(493): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT G	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	340	0.0029	-500	c.641 others(16): Show c.641-1273_641-774del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566806	GGGGTGAC others(493): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC T	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	340	0.0029	-500	c.641 others(17): Show c.641-2152_641-1653del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FKRP_chr19_46741057_46763575	46763075	TTTGGGAG others(493): Show TTTGGGAGGCCGAAGAGGGCGGATTACTTGAGGTCAGGAGTTCAAGACCA GCCTGAACAACATGGTGAAACCCCATCCCTACTAAAAATACAAAAATTAG CCGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGG CAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATT GCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTCAAAAA TAAAATAAGGTAAATAAAAAATAAAAAACCTGTCTACAAATGCACCTTTA TGCACAATAGCCCCAACCTGGAAACCATCAGATGTAAATCAACAGGTGGG TGGATAAGCAAACTGTGGTACACTCAGACAACATAATACTCCTTAGCAAG TTTTTTAAAAAAGGAAAGAACTGGGCCGGACGTGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGTCGAGGCGGGCCGATCACCTGAGGTCGGGAG T	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	430	0.0023	-500	c.61 others(11): Show c.6138_*6637del	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding		4501		chr19	TogoVar
HCN1_chr5_45249948_45701380	45526869	TATCAGCT others(493): Show TATCAGCTTAATTACCCCTGCCACACAGAGGTATGCTCCATCTTATTTCC TCCAATTTGCAAAGAAGGAAAGGGAAGCCAATTAAAATGTCTATGAACTA ACTTGGGTTTCAGTCGTCTATCAGAAATCTTTCCTTTCCTTCCTTCTCTG CCCATCATTCTCATTCTCTCTCTCTTTTCTCCCTCTTTCTCTCTCTCTCT CTCTCTGTCTCTCTCACACACACTGACATTCACATCCTTTCCTACACAGA CTGAGATAGATACTATTCTTTTGAGCCCAGAAACTTCCTTCACATTTTAA ATGTCTCTTCTCATCTATCTCTCTGAATAGAATGCGAGGGGACTGAAGGC AGAAAGAACATGTTATATTAATTTTTTTATATCTTCATTTGCATGGCGTA TAGTACAGAGTCAATAAATGTTTAGTGGTTTAAATTTCTGAAGGTGACAT GGCCAGTAATGGTGGAGATAGGATCTAAACAGAAGCTTATACCATGTTAT C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(59): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0004t0002 a0001c0006t0002	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0034 others(59): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0048 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0068 a0001c0001t0006g0057 a0001c0001t0007g0214 a0001c0001t0012g0064 a0001c0001t0016g0014 a0001c0001t0018g0018 a0001c0001t0027g0022 a0001c0001t0029g0070 a0001c0001t0030g0008 a0001c0001t0038g0016 a0001c0001t0039g0218 a0001c0004t0002g0006 a0001c0006t0002g0219	62	226	0.2743	-500	c.850 others(19): Show c.850-65362_850-64863del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
MLPH_chr2_237482251_237560322	237543300	GGGGGACA others(493): Show GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGG TGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGA CAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAG GACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03225.hp1 others(2): Show HG01496.hp2 HG02922.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 others(2): Show a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 a0008c0009t0002g0121 a0008c0009t0002g0122	5	286	0.0175	-500	c.153 others(18): Show c.1539+643_1539+1142del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(493): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0063 a0001c0013t0001g0063	1	319	0.0031	-500	c.-23 others(11): Show c.-2359_-1860del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2274		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(493): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA C	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02615.hp2 others(7): Show HG02040.hp2 HG02132.hp2 HG02615.hp2 HG04115.hp1 HG04184.hp1 NA18956.hp1 NA18981.hp2 NA18995.hp2 NA19065.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0008 a0004c0013 a0001c0001 a0002c0008 a0004c0013	a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 a0001c0001t0065 a0001c0001t0068 a0002c0008t0060 a0004c0013t0004	a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0133 others(7): Show a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0203 a0001c0001t0007g0186 a0001c0001t0054g0223 a0001c0001t0065g0058 a0001c0001t0068g0085 a0002c0008t0060g0187 a0004c0013t0004g0185	10	244	0.0410	-500	c.894 others(17): Show c.894-7777_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
SCUBE1_chr22_43192280_43348372	43280988	AGTCACCC others(493): Show AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCAC CTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTC CCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG GCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0020 a0002c0002t0005 a0001c0008t0020 a0002c0002t0005	a0001c0008t0020g0030 a0002c0002t0005g0042 a0001c0008t0020g0030 a0002c0002t0005g0042	2	280	0.0071	-500	c.484 others(18): Show c.484+9558_484+10057del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280990	TCACCCTG others(493): Show TCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA TCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTC CTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTG TCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCA CCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCT CCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCC TCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGG C	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0015 a0001c0051t0015	a0001c0051t0015g0013 a0001c0051t0015g0013	1	280	0.0036	-500	c.484 others(18): Show c.484+9556_484+10055del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	261582	CCAGAGCA others(493): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show HG02280.hp2 HG02647.hp2 HG03471.hp1 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0006 a0004c0005t0004 a0004c0005t0006	a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 others(1): Show a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	4	266	0.0150	-500	c.51 others(11): Show c.5163_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4501		chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79921342	GACAGGAA others(493): Show GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGA C	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0271 a0001c0001t0007g0271	1	352	0.0028	-500	c.392 others(17): Show c.392-2442_392-1943del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(493): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA T	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02559.hp2 others(7): Show HG01243.hp2 HG02451.hp2 HG02559.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0014 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0004g0011 a0001c0001t0004g0012	10	302	0.0331	-500	c.550 others(14): Show c.550+357_551-18del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(493): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0143 a0001c0003t0016g0144 a0001c0003t0016g0143 a0001c0003t0016g0144	2	302	0.0066	-500	c.550 others(14): Show c.550+330_551-45del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338021	GGACCTGA others(493): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	302	0.0033	-500	c.550 others(15): Show c.550+210_551-165del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar

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