Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	chr	external
SMARCA1_chrX_129441506_129528490	129482343	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.221 others(10): Show c.2218-1159delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	17/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129486412	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.221 others(9): Show c.2217+605delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	17/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129486968	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.221 others(8): Show c.2217+49delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	17/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129486988	AG AG	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.221 others(8): Show c.2217+29delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	17/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129487042	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.219 others(5): Show c.2192delG	p.Gly others(5): Show p.Gly731fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	17/25	2312/3989	2192/3213	731/1070	chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129487293	CA CA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.209 others(9): Show c.2098-157delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129487512	AT AT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.209 others(9): Show c.2098-376delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129487667	CT CT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.209 others(9): Show c.2098-531delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129487804	CT CT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.209 others(9): Show c.2098-668delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129488286	CA CA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02451.hp2 others(18): Show HG01069.hp1 HG01071.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp1 HG06807.hp2 NA19089.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0006c0007t0001 a0001c0001t0001 a0001c0001t0002 a0006c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0001t0001g0085 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0002g0028 a0006c0007t0001g0161	21	279	0.0753	-1	c.209 others(9): Show c.2097+650delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129488412	CA CA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	279	0.0036	-1	c.209 others(9): Show c.2097+524delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129488610	TA TA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp2 others(127): Show HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0009 a0001c0001 a0001c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0005t0001g0143 a0004c0009t0001g0262	130	279	0.4660	-1	c.209 others(9): Show c.2097+326delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129488780	AC AC	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.209 others(9): Show c.2097+156delG		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129489558	GT GT	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.194 others(9): Show c.1949-474delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	15/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491408	TA TA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	279	0.0036	-1	c.181 others(9): Show c.1815+532delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491509	CT CT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.181 others(9): Show c.1815+431delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491521	GT GT	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.181 others(9): Show c.1815+419delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491804	TC TC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.181 others(9): Show c.1815+136delG		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491863	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.181 others(8): Show c.1815+77delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129491962	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.179 others(5): Show c.1793delC	p.Pro others(5): Show p.Pro598fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	14/25	1913/3989	1793/3213	598/1070	chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129492462	GA GA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.166 others(9): Show c.1663-370delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	13/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129492695	AT AT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.166 others(9): Show c.1662+344delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	13/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129492743	GA GA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.166 others(9): Show c.1662+296delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	13/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129492927	AG AG	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.166 others(9): Show c.1662+112delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	13/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129493000	AT AT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.166 others(8): Show c.1662+39delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	13/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129493828	AG AG	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1627-754delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129493984	GA GA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1627-910delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129494445	TC TC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1627-1371delG		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129494651	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1627-1577delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129494858	CA CA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1627-1784delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129495017	TC TC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	279	0.0036	-1	c.162 others(10): Show c.1626+1732delG		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129495281	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1626+1468delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129495674	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1626+1075delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129495692	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(10): Show c.1626+1057delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129495774	CT CT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19081.hp1 NA18942.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0017 a0001c0001t0001g0121 a0001c0001t0002g0017	2	279	0.0072	-1	c.162 others(9): Show c.1626+975delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496146	GA GA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1626+603delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496367	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1626+382delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496492	AT AT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1626+257delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496496	GA GA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(9): Show c.1626+253delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496672	CA CA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.162 others(8): Show c.1626+77delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496774	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.160 others(5): Show c.1601delG	p.Gly others(5): Show p.Gly534fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/25	1721/3989	1601/3213	534/1070	chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129496868	GA GA	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.150 others(5): Show c.1507delT	p.Ser others(5): Show p.Ser503fs	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	12/25	1627/3989	1507/3213	503/1070	chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129497385	GT GT	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.150 others(9): Show c.1504+459delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	11/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129498126	CA CA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0161 a0006c0007t0001g0161	1	279	0.0036	-1	c.127 others(8): Show c.1278-56delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	10/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129500123	TA TA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01169.hp1 HG01496.hp1 others(9): Show HG01070.hp1 HG01169.hp1 HG01496.hp1 HG01975.hp1 HG02896.hp2 HG02976.hp1 HG03471.hp1 NA18968.hp2 NA18990.hp1 NA18993.hp2 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 others(9): Show a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0246	12	279	0.0430	-1	c.116 others(9): Show c.1168-283delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129501181	TA TA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	279	0.0036	-1	c.116 others(10): Show c.1168-1341delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129501299	CT CT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(100): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0003 others(1): Show a0001c0001 a0001c0008 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0003c0003t0002 a0005c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0264 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0008t0001g0136 a0003c0003t0002g0058 a0005c0006t0002g0043	103	279	0.3692	-1	c.116 others(10): Show c.1168-1459delA		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129501610	TG TG	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	279	0.0036	-1	c.116 others(10): Show c.1168-1770delC		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129503964	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00673.hp1 others(67): Show HG00544.hp2 HG00597.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01891.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19056.hp1 NA19066.hp1 NA19072.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0003 a0001c0001 a0001c0008 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0003c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 others(67): Show a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0160 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0008t0001g0136 a0003c0003t0002g0058	70	279	0.2509	-1	c.116 others(9): Show c.1167+769delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129504549	TA TA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp1 NA18942.hp2 others(3): Show HG02280.hp1 NA18906.hp1 NA18942.hp2 NA18950.hp1 NA18954.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0151 a0001c0001t0001g0198 a0001c0001t0001g0229	6	279	0.0215	-1	c.116 others(9): Show c.1167+184delT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24				chrX	TogoVar

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