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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
BCORL1_chrX_129977635_130063071	130032731	TTCTATTT others(9): Show TTCTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02559.hp2 others(13): Show HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA19043.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0009c0021	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0006t0002 a0009c0021t0002	a0001c0001t0002g0099 a0001c0001t0007g0057 a0001c0001t0007g0059 others(13): Show a0001c0001t0002g0099 a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0148 a0001c0003t0002g0174 a0001c0003t0002g0185 a0001c0003t0002g0193 a0001c0006t0002g0093 a0001c0006t0002g0094 a0001c0006t0002g0119 a0009c0021t0002g0007	16	203	0.0788	-16	c.430 others(35): Show c.4306-1722_4306-1707delCTATTTATTTATTTAT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(9): Show TTATATATATAAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp2 HG04199.hp1 others(7): Show HG02015.hp1 HG02165.hp2 HG04199.hp1 NA18747.hp1 NA18951.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0007t0006	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0090 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0021 a0001c0002t0001g0008 a0001c0002t0001g0135 a0001c0002t0001g0213 a0002c0007t0006g0009	10	257	0.0389	-16	c.55 others(27): Show c.5571_*5586delTATATTTATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4728		chrX	TogoVar
BCOR_chrX_40046251_40102958	40048503	GGCAGAGG others(9): Show GGCAGAGGTTGCAGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	257	0.0039	-16	c.35 others(27): Show c.3590_*3605delTCACTGCAACCTCTGC	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		2747		chrX	TogoVar
BCOR_chrX_40046251_40102958	40080815	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0243 a0001c0001t0002g0024 a0001c0001t0002g0033 others(5): Show a0001c0001t0001g0243 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0003g0242 a0001c0001t0010g0048	8	257	0.0311	-16	c.-40 others(33): Show c.-40-2862_-40-2847delACACACACACACACAC	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	1/14			chrX	TogoVar
BCR_chr22_23175509_23323037	23206937	TCATTCCT others(9): Show TCATTCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0149 a0002c0003t0149	a0002c0003t0149g0216 a0002c0003t0149g0216	1	296	0.0034	-16	c.127 others(37): Show c.1279+24700_1279+24715delATTCCTCCCTCCCTCC	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23262691	TGGCGGGC others(9): Show TGGCGGGCCCGGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(116): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18994.hp2 NA18997.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0015 a0001c0017 a0001c0021 a0001c0030 a0001c0040 a0002c0003 a0002c0007 a0005c0016 a0006c0023 a0007c0035 a0008c0029	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(96): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0049 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0101 a0001c0001t0120 a0001c0001t0123 a0001c0001t0126 a0001c0001t0131 a0001c0001t0132 a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0154 a0001c0001t0162 a0001c0002t0024 a0001c0002t0025 a0001c0002t0069 a0001c0002t0133 a0001c0004t0007 a0001c0004t0014 a0001c0004t0015 a0001c0004t0035 a0001c0004t0036 a0001c0004t0041 a0001c0004t0121 a0001c0004t0166 a0001c0004t0167 a0001c0004t0168 a0001c0004t0170 a0001c0004t0174 a0001c0004t0178 a0001c0004t0180 a0001c0004t0181 a0001c0004t0186 a0001c0004t0187 a0001c0004t0188 a0001c0004t0189 a0001c0004t0195 a0001c0004t0199 a0001c0004t0201 a0001c0004t0202 a0001c0004t0203 a0001c0004t0204 a0001c0004t0205 a0001c0004t0208 a0001c0004t0210 a0001c0004t0212 a0001c0004t0213 a0001c0004t0215 a0001c0004t0216 a0001c0005t0037 a0001c0005t0175 a0001c0005t0196 a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 a0001c0009t0039 a0001c0009t0211 a0001c0015t0193 a0001c0015t0197 a0001c0017t0006 a0001c0021t0161 a0001c0021t0165 a0001c0030t0219 a0001c0040t0075 a0002c0003t0002 a0002c0003t0057 a0002c0007t0042 a0005c0016t0040 a0006c0023t0138 a0007c0035t0079 a0008c0029t0209	a0001c0001t0004g0240 a0001c0001t0008g0125 a0001c0001t0009g0109 others(115): Show a0001c0001t0004g0240 a0001c0001t0008g0125 a0001c0001t0009g0109 a0001c0001t0009g0116 a0001c0001t0009g0117 a0001c0001t0013g0243 a0001c0001t0017g0200 a0001c0001t0021g0126 a0001c0001t0023g0235 a0001c0001t0023g0237 a0001c0001t0049g0271 a0001c0001t0051g0259 a0001c0001t0055g0003 a0001c0001t0056g0003 a0001c0001t0059g0166 a0001c0001t0062g0142 a0001c0001t0063g0141 a0001c0001t0064g0186 a0001c0001t0065g0122 a0001c0001t0066g0123 a0001c0001t0067g0105 a0001c0001t0074g0113 a0001c0001t0076g0264 a0001c0001t0077g0150 a0001c0001t0078g0104 a0001c0001t0080g0106 a0001c0001t0081g0110 a0001c0001t0085g0121 a0001c0001t0101g0189 a0001c0001t0120g0252 a0001c0001t0123g0211 a0001c0001t0126g0233 a0001c0001t0131g0289 a0001c0001t0132g0276 a0001c0001t0140g0213 a0001c0001t0141g0210 a0001c0001t0143g0246 a0001c0001t0144g0217 a0001c0001t0147g0209 a0001c0001t0150g0182 a0001c0001t0151g0135 a0001c0001t0152g0208 a0001c0001t0154g0198 a0001c0001t0162g0130 a0001c0002t0024g0204 a0001c0002t0024g0207 a0001c0002t0025g0178 a0001c0002t0069g0164 a0001c0002t0133g0180 a0001c0004t0007g0062 a0001c0004t0007g0070 a0001c0004t0007g0081 a0001c0004t0014g0043 a0001c0004t0015g0074 a0001c0004t0015g0075 a0001c0004t0015g0076 a0001c0004t0035g0019 a0001c0004t0035g0041 a0001c0004t0036g0072 a0001c0004t0036g0073 a0001c0004t0041g0048 a0001c0004t0041g0061 a0001c0004t0121g0094 a0001c0004t0166g0032 a0001c0004t0167g0042 a0001c0004t0168g0037 a0001c0004t0170g0053 a0001c0004t0174g0015 a0001c0004t0178g0028 a0001c0004t0180g0084 a0001c0004t0181g0058 a0001c0004t0186g0050 a0001c0004t0187g0067 a0001c0004t0188g0071 a0001c0004t0189g0069 a0001c0004t0195g0049 a0001c0004t0199g0031 a0001c0004t0201g0012 a0001c0004t0202g0006 a0001c0004t0203g0035 a0001c0004t0204g0054 a0001c0004t0205g0033 a0001c0004t0208g0077 a0001c0004t0210g0018 a0001c0004t0212g0021 a0001c0004t0213g0025 a0001c0004t0215g0029 a0001c0004t0216g0023 a0001c0005t0037g0040 a0001c0005t0175g0011 a0001c0005t0196g0057 a0001c0006t0001g0145 a0001c0006t0001g0156 a0001c0006t0001g0161 a0001c0006t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0190 a0001c0006t0061g0162 a0001c0006t0084g0120 a0001c0009t0039g0055 a0001c0009t0039g0056 a0001c0009t0211g0059 a0001c0015t0193g0052 a0001c0015t0197g0051 a0001c0017t0006g0170 a0001c0021t0161g0193 a0001c0021t0165g0191 a0001c0030t0219g0202 a0001c0040t0075g0143 a0002c0003t0002g0238 a0002c0003t0002g0263 a0002c0003t0057g0114 a0002c0007t0042g0001 a0005c0016t0040g0046 a0005c0016t0040g0047 a0006c0023t0138g0185 a0007c0035t0079g0111 a0008c0029t0209g0026	119	296	0.4020	-16	c.175 others(35): Show c.1752+1174_1752+1189delCCCGGGTGAGGGCGGG	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510599	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0093 a0001c0001t0187g0093	1	319	0.0031	-16	c.12 others(27): Show c.1280_*1295delACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1280		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96227645	ACACAAAC others(9): Show ACACAAACACACATGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0049 a0001c0001t0006 a0001c0001t0049	a0001c0001t0006g0228 a0001c0001t0049g0084 a0001c0001t0006g0228 a0001c0001t0049g0084	2	436	0.0046	-16	c.-39 others(33): Show c.-39-9412_-39-9397delATGTGCACAAACACAC	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96243481	GAGGGCTA others(9): Show GAGGGCTAGAACCTGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02280.hp2 HG02738.hp1 others(6): Show HG01346.hp1 HG02280.hp2 HG02738.hp1 HG02886.hp1 HG03654.hp1 HG04199.hp2 NA19043.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0058 a0001c0001t0015 a0001c0001t0019 a0001c0001t0058	a0001c0001t0015g0085 a0001c0001t0015g0095 a0001c0001t0015g0216 others(6): Show a0001c0001t0015g0085 a0001c0001t0015g0095 a0001c0001t0015g0216 a0001c0001t0015g0274 a0001c0001t0015g0339 a0001c0001t0019g0219 a0001c0001t0019g0220 a0001c0001t0019g0337 a0001c0001t0058g0225	9	436	0.0206	-16	c.19 others(27): Show c.1992_*2007delGAAGGGCTAGAACCTG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1992	INFO_REALIGN_3_PRIME	chr14	TogoVar
BDNF_chr11_27649893_27705455	27664341	TTACTTAC others(9): Show TTACTTACCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03710.hp2 HG02074.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	2	360	0.0056	-16	c.-21 others(33): Show c.-21-5772_-21-5757delGGGAGGGAGGTAAGTA	BDNF	ENSG00000176697.20	transcript	ENST00000356660.9	protein_coding	1/1			chr11	TogoVar
BDP1_chr5_71450651_71572820	71451104	TACACACA others(9): Show TACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01433.hp1 others(16): Show HG01167.hp1 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG02976.hp1 HG03098.hp1 HG03669.hp2 HG03710.hp2 HG04199.hp1 HG06807.hp1 NA18906.hp1 NA18982.hp1 NA19043.hp1 NA19082.hp1 NA19087.hp1 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0009 a0031 a0038 a0039	a0001c0026 a0002c0002 a0004c0004 others(5): Show a0001c0026 a0002c0002 a0004c0004 a0005c0005 a0009c0008 a0031c0029 a0038c0035 a0039c0031	a0001c0026t0002 a0002c0002t0001 a0004c0004t0004 others(6): Show a0001c0026t0002 a0002c0002t0001 a0004c0004t0004 a0005c0005t0001 a0009c0008t0002 a0009c0008t0007 a0031c0029t0004 a0038c0035t0001 a0039c0031t0016	a0001c0026t0002g0012 a0002c0002t0001g0181 a0004c0004t0004g0311 others(16): Show a0001c0026t0002g0012 a0002c0002t0001g0181 a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0004g0315 a0004c0004t0004g0316 a0004c0004t0004g0318 a0004c0004t0004g0319 a0004c0004t0004g0320 a0005c0005t0001g0233 a0009c0008t0002g0007 a0009c0008t0002g0090 a0009c0008t0007g0095 a0009c0008t0007g0096 a0031c0029t0004g0317 a0038c0035t0001g0123 a0039c0031t0016g0010	19	325	0.0585	-16	c.-47 others(27): Show c.-4773_-4758delACACACACACACACAC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding		4546		chr5	TogoVar
BEAN1_chr16_66422295_66487833	66433558	CCTTCCTA others(9): Show CCTTCCTAAAGAGAGAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	298	0.0034	-16	c.-82 others(33): Show c.-82-4036_-82-4021delCTTCCTAAAGAGAGAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	1/4			chr16	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00642.hp2 others(19): Show HG00323.hp2 HG00544.hp1 HG00642.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01934.hp2 HG02451.hp1 HG02698.hp2 HG03017.hp2 HG03130.hp1 HG03492.hp1 HG03942.hp1 NA18747.hp1 NA18997.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(19): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0011g0277	22	298	0.0738	-16	c.25+ others(31): Show c.25+7799_25+7814delAAAAAAAAAAAAAAAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66461569	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG02572.hp2 HG00738.hp1 HG02109.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0004 a0001c0001t0009g0019 a0001c0001t0004g0004 a0001c0001t0009g0019	3	298	0.0101	-16	c.26- others(31): Show c.26-8003_26-7988delCACACACACACACACA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66473696	CTAAATAA others(9): Show CTAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	298	0.0034	-16	c.289 others(33): Show c.289+3843_290-3837delATAAATAAATAAATAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BECN2_chr1_241952767_241964062	241957039	CTGTGTGT others(9): Show CTGTGTGTGTGTATGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01516.hp1 HG01517.hp1 others(8): Show HG00280.hp2 HG01516.hp1 HG01517.hp1 HG02683.hp1 HG03195.hp2 HG03669.hp2 HG03834.hp1 NA18953.hp2 NA18990.hp2 NA19066.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0000 a0002c0002t0000 a0004c0004t0000 a0001c0001t0000 a0002c0002t0000 a0004c0004t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000	11	444	0.0248	-16	c.-72 others(25): Show c.-727_-712delTGTGTGTGTGTATGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		727		chr1	TogoVar
BEGAIN_chr14_100532147_100592417	100546774	GCGCGCGC others(9): Show GCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0273 a0001c0004t0001g0273	1	326	0.0031	-16	c.72- others(29): Show c.72-128_72-113delTGTGTGTGTGCGCGCG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	2/6			chr14	TogoVar
BEND2_chrX_18157931_18225886	18224006	CATATATA others(9): Show CATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(39): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02735.hp1 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 NA18942.hp1 NA18968.hp2 NA18973.hp1 NA19057.hp1 NA19057.hp2 NA19075.hp1 NA19086.hp1 NA19087.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0009 others(3): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0016 a0002c0003t0001 a0003c0005t0001 a0003c0005t0017	a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0001g0144 others(39): Show a0001c0001t0001g0058 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0007t0001g0221 a0001c0009t0001g0263 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0016g0179 a0002c0003t0001g0268 a0003c0005t0001g0209 a0003c0005t0017g0208	42	295	0.1424	-16	c.-32 others(27): Show c.-3272_-3257delATATATATATATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3121		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(9): Show GTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(11): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02723.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18984.hp2 NA18995.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0001t0051 a0001c0002t0011 a0001c0017t0003	a0001c0001t0002g0015 a0001c0001t0003g0007 a0001c0001t0003g0035 others(11): Show a0001c0001t0002g0015 a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0206 a0001c0001t0011g0344 a0001c0001t0019g0345 a0001c0001t0019g0347 a0001c0001t0023g0112 a0001c0001t0028g0202 a0001c0001t0051g0157 a0001c0002t0011g0350 a0001c0017t0003g0036	14	368	0.0380	-16	c.241 others(33): Show c.241-2263_241-2248delTATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp1 HG00735.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0004 a0001c0002t0006 a0001c0003t0004	a0001c0002t0006g0082 a0001c0003t0004g0128 a0001c0002t0006g0082 a0001c0003t0004g0128	2	368	0.0054	-16	c.241 others(33): Show c.241-2267_241-2252delTATATATATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND5_chr1_48722519_48781891	48762612	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00621.hp1 others(48): Show HG00323.hp2 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02809.hp2 HG02965.hp1 HG03041.hp2 HG03239.hp2 HG03540.hp2 HG03710.hp1 HG04228.hp1 NA18747.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp1 NA18988.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0001g0173 others(41): Show a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0172 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0085 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0002g0199 a0001c0002t0002g0242 a0001c0002t0003g0031	51	342	0.1491	-16	c.227 others(33): Show c.227-1158_227-1143delCACACACACACACAAA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48762614	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0298 a0003c0008t0001g0298	1	342	0.0029	-16	c.227 others(33): Show c.227-1160_227-1145delCACACACACACACACA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND5_chr1_48722519_48781891	48775153	AGTTTCTT others(9): Show AGTTTCTTTGGCCCTAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	342	0.0029	-16	c.226 others(33): Show c.226+1437_226+1452delCTAGGGCCAAAGAAAC	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND7_chr10_13436088_13534014	13481457	ACAAAGGA others(9): Show ACAAAGGAACTAAGGCC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 NA18968.hp2 others(2): Show HG02602.hp1 HG03704.hp1 NA18968.hp2 NA18997.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 others(2): Show a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048	5	300	0.0167	-16	c.838 others(31): Show c.838-349_838-334delGGCCTTAGTTCCTTTG	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	5/8			chr10	TogoVar
BEST1_chr11_61945351_61969461	61958891	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18947.hp2 NA18954.hp2 others(12): Show HG03017.hp2 NA18947.hp2 NA18954.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp2 NA18991.hp2 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19060.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0135 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0007t0001g0191	15	410	0.0366	-16	c.868 others(31): Show c.868-591_868-576delTACACACACACACACA	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST3_chr12_69648609_69704303	69700888	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01928.hp2 HG02293.hp2 others(1): Show HG00280.hp1 HG01928.hp2 HG02293.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0006t0006 a0002c0002t0002 a0001c0001t0002 a0001c0006t0006 a0002c0002t0002	a0001c0001t0002g0303 a0001c0006t0006g0238 a0002c0002t0002g0035 others(1): Show a0001c0001t0002g0303 a0001c0006t0006g0238 a0002c0002t0002g0035 a0002c0002t0002g0246	4	366	0.0109	-16	c.-17 others(27): Show c.-1715_-1700delGGAAGGAAGGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1586		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700936	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	366	0.0027	-16	c.-17 others(27): Show c.-1763_-1748delCGAAGGAAGGAAGGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1634		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700948	CTTCGTTC others(9): Show CTTCGTTCCTTCCTTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG02055.hp2 others(16): Show HG00639.hp1 HG01167.hp1 HG02055.hp2 HG02109.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0006 a0003c0003 others(2): Show a0001c0001 a0001c0006 a0003c0003 a0004c0005 a0005c0013	a0001c0001t0001 a0001c0006t0006 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0006t0006 a0003c0003t0001 a0004c0005t0005 a0005c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0102 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0102 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0006t0006g0237 a0003c0003t0001g0229 a0004c0005t0005g0214 a0004c0005t0005g0215 a0005c0013t0001g0212	19	366	0.0519	-16	c.-17 others(27): Show c.-1775_-1760delCGAAGGAAGGAACGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		1646		chr12	TogoVar
BEX1_chrX_103057651_103069171	103059972	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01981.hp1 HG03942.hp1 HG01952.hp1 HG01981.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0001g0040 a0001c0001t0002g0004 a0001c0001t0002g0007	3	339	0.0089	-16	c.29 others(27): Show c.2909_*2924delGAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2678		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060002	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	339	0.0030	-16	c.28 others(27): Show c.2879_*2894delTAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2648		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060004	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG02486.hp1 others(5): Show HG00408.hp2 HG01168.hp2 HG02486.hp1 HG03654.hp1 NA18612.hp1 NA19070.hp1 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0002g0004 a0001c0001t0002g0007	8	339	0.0236	-16	c.28 others(27): Show c.2877_*2892delTATAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2646		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060006	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01993.hp2 others(10): Show HG01168.hp1 HG01169.hp1 HG01993.hp2 HG03486.hp1 NA18963.hp2 NA18965.hp1 NA18973.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp1 NA19067.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0004	13	339	0.0384	-16	c.28 others(27): Show c.2875_*2890delTATATAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2644		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060008	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01175.hp1 HG01934.hp1 others(14): Show HG00544.hp2 HG01175.hp1 HG01934.hp1 HG02165.hp1 HG02165.hp2 HG02630.hp2 HG03491.hp2 HG03492.hp1 NA18942.hp1 NA18945.hp1 NA18969.hp1 NA18975.hp1 NA18986.hp1 NA19005.hp1 NA19007.hp1 NA19083.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0002g0004 a0001c0001t0002g0007	17	339	0.0502	-16	c.28 others(27): Show c.2873_*2888delTATATATAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2642		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060010	CTCTCTCT others(9): Show CTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG01255.hp1 others(17): Show HG00621.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG02015.hp1 HG02074.hp1 HG02818.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18968.hp2 NA18992.hp1 NA18998.hp2 NA19001.hp1 NA19011.hp1 NA19011.hp2 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0004g0043	20	339	0.0590	-16	c.28 others(27): Show c.2871_*2886delTATATATATAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2640		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060012	CTCTCTAT others(9): Show CTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG02027.hp1 others(10): Show HG00099.hp1 HG00423.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG03209.hp1 HG03491.hp1 NA18964.hp2 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA19076.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0001t0002g0027	13	339	0.0384	-16	c.28 others(27): Show c.2869_*2884delTATATATATATAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2638		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060014	CTCTATAT others(9): Show CTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18946.hp1 NA18998.hp1 others(4): Show HG02155.hp2 NA18946.hp1 NA18998.hp1 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0004 a0002c0002t0001g0038	7	339	0.0207	-16	c.28 others(27): Show c.2867_*2882delTATATATATATATAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2636		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	CTATATAT others(9): Show CTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA18943.hp1 NA18951.hp1 others(2): Show HG03927.hp1 NA18943.hp1 NA18951.hp1 NA19072.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0026	5	339	0.0148	-16	c.28 others(27): Show c.2865_*2880delTATATATATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309252	GTATATAT others(9): Show GTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	308	0.0033	-16	c.32 others(25): Show c.322_*337delTATATATATATATATA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		93		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	CATATATA others(9): Show CATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(173): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0003g0006 a0001c0001t0003g0015 a0001c0001t0005g0023	176	324	0.5432	-16	c.30 others(25): Show c.308_*323delATATATATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01167.hp2 others(15): Show HG00423.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01952.hp1 HG02129.hp1 HG02155.hp1 HG02273.hp1 HG02615.hp1 HG02717.hp2 HG02738.hp1 HG04184.hp2 NA18945.hp1 NA18960.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0001 a0001c0001t0001 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0269 a0001c0002t0001g0059 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0150 a0001c0002t0001g0170 a0001c0002t0001g0180 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0221 a0002c0007t0001g0236	18	276	0.0652	-16	c.490 others(31): Show c.490-692_490-677delTATATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449978	AAGGAAAG others(9): Show AAGGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02809.hp2 others(1): Show HG02258.hp2 HG02280.hp2 HG02809.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0143 a0001c0001t0001g0241	4	276	0.0145	-16	c.730 others(31): Show c.730-323_730-308delGGAAAGGAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01257.hp1 others(2): Show HG01070.hp2 HG01074.hp2 HG01257.hp1 HG01928.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0085 a0001c0002t0001g0086 others(2): Show a0001c0002t0001g0058 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0178 a0001c0002t0001g0186	5	276	0.0181	-16	c.730 others(31): Show c.730-299_730-284delAGGAAGGAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153509051	CTCTCTCT others(9): Show CTCTCTCTTTCTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG03139.hp1 NA18522.hp1 HG02896.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0032 a0001c0002t0018g0186 a0001c0002t0018g0032 a0001c0002t0018g0186	3	321	0.0094	-16	c.60 others(25): Show c.608_*623delCTCTCTTTCTGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	608	INFO_REALIGN_3_PRIME	chrX	TogoVar
BHLHA9_chr17_1265444_1276815	1275495	TGAGTGTG others(9): Show TGAGTGTGTGTGTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0000 a0001c0002t0009g0000 a0001c0002t0002g0000 a0001c0002t0009g0000	2	442	0.0045	-16	c.42 others(27): Show c.4225_*4240delGAGTGTGTGTGTGAGG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3681		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1275829	GGTGAGTG others(9): Show GGTGAGTGTATGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18960.hp2 NA19060.hp2 HG00597.hp2 NA18960.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	3	442	0.0068	-16	c.45 others(27): Show c.4559_*4574delGTGAGTGTATGAGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4015		chr17	TogoVar
BHMT_chr5_79106809_79137288	79123531	GGTTGGTT others(9): Show GGTTGGTTGGTTGGTTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0294 a0002c0002t0001g0129 a0002c0002t0001g0294	2	432	0.0046	-16	c.625 others(33): Show c.625+2182_625+2197delCGTTGGTTGGTTGGTT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT_chr5_79106809_79137288	79137103	ATACGAAT others(9): Show ATACGAATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(16): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG02155.hp2 HG03516.hp2 HG03704.hp1 NA18747.hp2 NA18952.hp1 NA18989.hp1 NA18990.hp2 NA19054.hp1 NA19067.hp1 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0053 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0193 a0001c0001t0008g0058	19	432	0.0440	-16	c.59 others(27): Show c.5988_*6003delTACGAATATATATACG	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4816		chr5	TogoVar
BHMT_chr5_79106809_79137288	79137106	CGAATATA others(9): Show CGAATATATATACGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	432	0.0023	-16	c.59 others(27): Show c.5991_*6006delGAATATATATACGAAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4819		chr5	TogoVar
BHMT_chr5_79106809_79137288	79137170	TATATATA others(9): Show TATATATATACGAATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	432	0.0023	-16	c.60 others(27): Show c.6055_*6070delATATATATACGAATAC	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4883		chr5	TogoVar
BICC1_chr10_58507872_58836435	58557378	GAGCTTCT others(9): Show GAGCTTCTTGGATTTAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0010 a0001c0001t0007 a0002c0002t0010	a0001c0001t0007g0122 a0002c0002t0010g0121 a0001c0001t0007g0122 a0002c0002t0010g0121	2	132	0.0152	-16	c.190 others(35): Show c.190+44051_190+44066delCTTGGATTTATAGCTT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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