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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASF1B_chr19_14114512_14141589	14129708	AAAGAAG AAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043	6	334	0.0180	-6	c.110 others(23): Show c.110-3477_110-3472delCTTCTT		ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3						chr19	TogoVar
ASGR1_chr17_7168431_7184370	7176050	ACAGACT ACAGACT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03540.hp2 HG02109.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0002g0120 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0002g0120	3	442	0.0068	-6	c.355 others(21): Show c.355+774_355+779delAGTCTG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR1_chr17_7168431_7184370	7176792	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02647.hp1 HG03540.hp2 others(10): Show HG00609.hp2 HG02647.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 NA18955.hp1 NA18973.hp2 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA19012.hp1 NA19054.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0121 a0001c0001t0002g0120 a0001c0001t0006g0034 others(6): Show a0001c0001t0001g0121 a0001c0001t0002g0120 a0001c0001t0006g0034 a0001c0001t0006g0073 a0001c0001t0006g0104 a0001c0003t0001g0018 a0001c0003t0001g0092 a0001c0003t0001g0110 a0001c0003t0001g0140	13	442	0.0294	-6	c.355 others(19): Show c.355+32_355+37delTGTGTG		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7113704	ACACTCT ACACTCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01081.hp2 others(51): Show HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02056.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA19004.hp1 NA19012.hp2 NA19062.hp1 NA19080.hp2 NA19085.hp2 NA19089.hp1 NA20129.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0016 a0005c0014	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0002t0003 a0001c0002t0008 a0001c0006t0005 a0001c0016t0003 a0005c0014t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 others(36): Show a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0005g0267 a0001c0001t0008g0006 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0010g0021 a0001c0001t0010g0050 a0001c0001t0010g0317 a0001c0001t0010g0318 a0001c0001t0014g0295 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0291 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0008g0292 a0001c0006t0005g0268 a0001c0016t0003g0301 a0005c0014t0003g0293	54	432	0.1250	-6	c.124 others(21): Show c.124+407_124+412delAGAGTG		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8						chr17	TogoVar
ASH1L_chr1_155330268_155567803	155345828	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp2 HG02451.hp1 others(2): Show HG01891.hp1 HG01975.hp2 HG02451.hp1 HG02630.hp1 HG03834.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0006 a0004c0004t0004 a0001c0001t0006 a0004c0004t0004	a0001c0001t0006g0082 a0001c0001t0006g0084 a0004c0004t0004g0005 others(2): Show a0001c0001t0006g0082 a0001c0001t0006g0084 a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007	5	182	0.0275	-6	c.789 others(23): Show c.7890+549_7890+554delAAAAAA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	21/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155365372	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(57): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01516.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp2 HG02717.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp2 NA19067.hp1 NA19068.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0009 a0001c0016 others(2): Show a0001c0001 a0001c0009 a0001c0016 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0009t0015 a0001c0016t0001 a0007c0007t0007 a0009c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0050 others(57): Show a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0007g0131 a0001c0001t0008g0040 a0001c0001t0008g0137 a0001c0001t0010g0001 a0001c0001t0012g0003 a0001c0001t0018g0144 a0001c0001t0023g0159 a0001c0001t0024g0169 a0001c0009t0015g0009 a0001c0016t0001g0138 a0007c0007t0007g0130 a0009c0011t0001g0127	60	182	0.3297	-6	c.668 others(25): Show c.6687-4969_6687-4964delAAAAAA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	12/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411582	AATAAAT AATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG02055.hp1 HG02818.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0007 a0001c0001t0001 a0007c0007t0007	a0001c0001t0001g0103 a0007c0007t0007g0130 a0001c0001t0001g0103 a0007c0007t0007g0130	2	182	0.0110	-6	c.600 others(25): Show c.6008+4156_6008+4161delATTTAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG02109.hp1 others(3): Show HG00280.hp1 HG00639.hp1 HG02109.hp1 HG03239.hp1 NA19009.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0003c0003t0003 a0001c0001t0001 a0001c0001t0011 a0003c0003t0003	a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0011g0002 a0003c0003t0003g0177	6	182	0.0330	-6	c.600 others(25): Show c.6008+4152_6008+4157delATATAT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155514545	TTTTATA TTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02055.hp2 others(12): Show HG01109.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp1 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0011	a0001c0001 a0001c0008 a0003c0003 others(4): Show a0001c0001 a0001c0008 a0003c0003 a0004c0004 a0005c0005 a0008c0013 a0011c0014	a0001c0001t0005 a0001c0008t0002 a0003c0003t0003 others(4): Show a0001c0001t0005 a0001c0008t0002 a0003c0003t0003 a0004c0004t0004 a0005c0005t0002 a0008c0013t0002 a0011c0014t0002	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 others(12): Show a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0008t0002g0168 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007 a0005c0005t0002g0174 a0005c0005t0002g0175 a0008c0013t0002g0180 a0011c0014t0002g0173	15	182	0.0824	-6	c.420 others(23): Show c.420+6549_420+6554delTATAAA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASH1L_chr1_155330268_155567803	155556401	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp2 NA19240.hp1 HG03688.hp2 HG03942.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109	3	182	0.0165	-6	c.-10 others(25): Show c.-100+5746_-100+5751delACACAC		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27						chr1	TogoVar
ASH2L_chr8_38100529_38145080	38120618	TCCCCCC TCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(58): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG03471.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(46): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0249 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0003g0281 a0001c0002t0004g0001 a0001c0010t0001g0017	61	330	0.1849	-6	c.948 others(21): Show c.948-301_948-296delCCCCCC		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38121333	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp2 others(59): Show HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01993.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18950.hp2 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19079.hp2 NA19083.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0007 a0001c0001 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0005 a0004c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(56): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0006g0020 a0001c0001t0007g0204 a0001c0003t0005g0305 a0004c0007t0001g0239	62	330	0.1879	-6	c.116 others(23): Show c.1165+224_1165+229delATATAT		ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ASIC1_chr12_50052596_50088611	50074860	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01109.hp1 others(22): Show HG00423.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01346.hp1 HG02109.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0039 others(12): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0006 a0001c0001t0002g0091 a0001c0001t0002g0123 a0001c0004t0001g0052 a0001c0004t0001g0111 a0001c0004t0001g0120	25	324	0.0772	-6	c.559 others(23): Show c.559-2311_559-2306delGTGTGT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33087575	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02258.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG02258.hp2 HG03579.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0006 a0001c0002t0002 a0001c0006t0012 others(1): Show a0001c0001t0006 a0001c0002t0002 a0001c0006t0012 a0002c0003t0002	a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0002t0002g0100 others(2): Show a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0002t0002g0100 a0001c0006t0012g0091 a0002c0003t0002g0214	5	240	0.0208	-6	c.987 others(23): Show c.987+1282_987+1287delAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33164576	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(56): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01952.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18947.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0002t0029 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018	a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0018 others(55): Show a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0042 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0004g0011 a0001c0001t0004g0059 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0006g0057 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0007g0227 a0001c0001t0009g0061 a0001c0001t0013g0016 a0001c0001t0013g0051 a0001c0001t0019g0232 a0001c0001t0023g0084 a0001c0001t0026g0092 a0001c0002t0001g0111 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0107 a0001c0002t0002g0123 a0001c0002t0002g0130 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0005g0094 a0001c0002t0005g0108 a0001c0002t0006g0007 a0001c0002t0017g0109 a0001c0002t0029g0104 a0001c0004t0001g0001 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0002g0150 a0001c0004t0002g0163 a0001c0004t0002g0175 a0001c0004t0004g0008 a0002c0003t0001g0181 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0001g0197 a0002c0003t0001g0208 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0005g0221 a0002c0003t0008g0183 a0002c0003t0010g0207 a0002c0003t0017g0206 a0002c0003t0018g0203	59	240	0.2458	-6	c.709 others(25): Show c.709-52515_709-52510delTGTGTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33233514	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02976.hp2 others(2): Show HG01891.hp2 HG02572.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0011 a0001c0002t0005 others(1): Show a0001c0001t0007 a0001c0001t0011 a0001c0002t0005 a0001c0002t0012	a0001c0001t0007g0224 a0001c0001t0011g0003 a0001c0001t0011g0004 others(2): Show a0001c0001t0007g0224 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0002t0005g0101 a0001c0002t0012g0089	5	240	0.0208	-6	c.708 others(25): Show c.708+57888_708+57893delTGTGTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33288715	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01884.hp2 others(14): Show HG01192.hp2 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02572.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 others(8): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0017 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0002c0003t0002	a0001c0001t0007g0224 a0001c0001t0011g0002 a0001c0001t0011g0003 others(14): Show a0001c0001t0007g0224 a0001c0001t0011g0002 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0019g0225 a0001c0002t0002g0093 a0001c0002t0002g0107 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0103 a0001c0002t0005g0108 a0001c0002t0008g0106 a0001c0002t0017g0109 a0001c0002t0028g0105 a0001c0002t0029g0104 a0001c0002t0032g0223 a0002c0003t0002g0214	17	240	0.0708	-6	c.708 others(23): Show c.708+2687_708+2692delGTGTGT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC3_chr7_151043531_151057754	151050846	CCCCCAG CCCCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 NA18948.hp2 NA18953.hp2 others(4): Show HG00438.hp1 NA18948.hp2 NA18953.hp2 NA19004.hp1 NA19009.hp1 NA19076.hp2 NA19086.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	7	418	0.0168	-6	c.918 others(13): Show c.918_923delCAGCCC	p.Ser others(13): Show p.Ser307_Pro308del	ASIC3	ENSG00000213199.8	transcript	ENST00000349064.10	protein_coding	4/11	1273/2053	918/1596	306/531		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASIC5_chr4_155824729_155871277	155825297	TACACAC TACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp1 others(37): Show HG00140.hp2 HG00280.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG02083.hp2 HG02135.hp1 HG02257.hp2 HG02622.hp2 HG02698.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03516.hp1 NA18939.hp2 NA18948.hp1 NA18956.hp2 NA18981.hp2 NA18985.hp1 NA19011.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0002g0002 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0002t0001g0003 a0001c0002t0004g0027 a0001c0002t0004g0054 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0007t0001g0090 a0002c0004t0001g0022 a0002c0004t0001g0178	40	334	0.1198	-6	c.45 others(17): Show c.4553_*4558delGTGTGT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding					4431		chr4	TogoVar
ASIC5_chr4_155824729_155871277	155839348	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00642.hp1 others(50): Show HG00423.hp1 HG00544.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG06807.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19010.hp1 NA19043.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0002c0004t0001 a0004c0008t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0088 others(22): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0005g0033 a0001c0001t0007g0089 a0001c0002t0001g0063 a0002c0004t0001g0178 a0002c0004t0001g0179 a0004c0008t0002g0077	53	334	0.1587	-6	c.101 others(23): Show c.1010-485_1010-480delGTGTGT		ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding	6/9						chr4	TogoVar
ASIP_chr20_34236423_34274344	34257060	CTTTCTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG01074.hp2 HG01515.hp2 HG01517.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0202 a0001c0001t0002g0203 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204	5	306	0.0163	-6	c.-10 others(23): Show c.-10-3303_-10-3298delTTCTTT		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASL_chr7_66070819_66098576	66087243	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02257.hp2 others(4): Show HG01361.hp1 HG01361.hp2 HG02257.hp2 NA18956.hp2 NA18971.hp1 NA19070.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0029 a0001c0001t0002g0118 others(3): Show a0001c0001t0001g0103 a0001c0001t0002g0029 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0148	7	316	0.0222	-6	c.603 others(19): Show c.603-56_603-51delGTGTGT		ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASMTL_chrX_1398139_1457909	1400363	CTGTGTG CTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03195.hp1 others(1): Show HG01884.hp2 HG02922.hp1 HG03195.hp1 NA18906.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0014 a0005c0027 a0007c0017 a0002c0014 a0005c0027 a0007c0017	a0002c0014t0001 a0005c0027t0001 a0007c0017t0001 a0002c0014t0001 a0005c0027t0001 a0007c0017t0001	a0002c0014t0001g0177 a0005c0027t0001g0175 a0007c0017t0001g0167 others(1): Show a0002c0014t0001g0177 a0005c0027t0001g0175 a0007c0017t0001g0167 a0007c0017t0001g0168	4	185	0.0216	-6	c.29 others(17): Show c.2900_*2905delCACACA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					2775		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1411806	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 NA18522.hp2 others(1): Show HG02280.hp2 HG03486.hp2 NA18522.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0009 a0003c0005 others(1): Show a0002c0003 a0002c0009 a0003c0005 a0003c0029	a0002c0003t0001 a0002c0009t0001 a0003c0005t0001 others(1): Show a0002c0003t0001 a0002c0009t0001 a0003c0005t0001 a0003c0029t0001	a0002c0003t0001g0176 a0002c0009t0001g0072 a0003c0005t0001g0097 others(1): Show a0002c0003t0001g0176 a0002c0009t0001g0072 a0003c0005t0001g0097 a0003c0029t0001g0151	4	185	0.0216	-6	c.164 others(23): Show c.1645+920_1645+925delAAAAAA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1415852	ACACAGG ACACAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0041 a0010c0041	a0010c0041t0001 a0010c0041t0001	a0010c0041t0001g0161 a0010c0041t0001g0161	1	185	0.0054	-6	c.152 others(25): Show c.1522+2115_1522+2120delCCTGTG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1416478	CATACAG CATACAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	185	0.0054	-6	c.152 others(25): Show c.1522+1489_1522+1494delCTGTAT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1416940	TCAGACA TCAGACA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18984.hp1 NA19012.hp1 NA18950.hp1 NA18984.hp1 NA19012.hp1	a0003 a0003	a0003c0002 a0003c0005 a0003c0002 a0003c0005	a0003c0002t0001 a0003c0005t0001 a0003c0002t0001 a0003c0005t0001	a0003c0002t0001g0141 a0003c0005t0001g0037 a0003c0005t0001g0132 a0003c0002t0001g0141 a0003c0005t0001g0037 a0003c0005t0001g0132	3	185	0.0162	-6	c.152 others(25): Show c.1522+1027_1522+1032delTGTCTG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1417721	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02135.hp1 HG02572.hp2 HG01070.hp1 HG02135.hp1 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0040 a0003c0002 a0001c0001 a0001c0040 a0003c0002	a0001c0001t0001 a0001c0040t0001 a0003c0002t0003 a0001c0001t0001 a0001c0040t0001 a0003c0002t0003	a0001c0001t0001g0121 a0001c0040t0001g0099 a0003c0002t0003g0100 a0001c0001t0001g0121 a0001c0040t0001g0099 a0003c0002t0003g0100	3	185	0.0162	-6	c.152 others(23): Show c.1522+246_1522+251delGTGTGT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1419911	TCTCTGA TCTCTGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp1 HG02280.hp2 others(6): Show HG00741.hp1 HG01123.hp1 HG02280.hp2 HG02615.hp1 HG02896.hp2 HG03195.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0043 a0001c0011 a0001c0042 others(4): Show a0000c0043 a0001c0011 a0001c0042 a0002c0003 a0002c0009 a0002c0031 a0002c0033	a0000c0043t0001 a0001c0011t0001 a0001c0042t0001 others(4): Show a0000c0043t0001 a0001c0011t0001 a0001c0042t0001 a0002c0003t0001 a0002c0009t0001 a0002c0031t0001 a0002c0033t0001	a0000c0043t0001g0069 a0001c0011t0001g0014 a0001c0011t0001g0174 others(6): Show a0000c0043t0001g0069 a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 a0001c0042t0001g0005 a0002c0003t0001g0176 a0002c0009t0001g0072 a0002c0031t0001g0131 a0002c0033t0001g0171	9	185	0.0487	-6	c.124 others(23): Show c.1246-803_1246-798delTCAGAG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	9/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1431281	ATAAAAT ATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0171 a0002c0033t0001g0171	1	185	0.0054	-6	c.509 others(21): Show c.509+982_509+987delATTTTA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1434805	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0113 a0005c0038t0001g0113	1	185	0.0054	-6	c.400 others(21): Show c.400+211_400+216delCTTTTT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12						chrX	TogoVar
ASMT_chrX_1610059_1648081	1619549	TATAATA TATAATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18986.hp2 NA18992.hp2 HG00735.hp1 NA18986.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0076 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0001t0001g0076 a0001c0003t0001g0092 a0001c0003t0001g0093	3	223	0.0135	-6	c.70- others(21): Show c.70-3555_70-3550delTAATAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1634180	CATAGTT CATAGTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0011 a0003c0009t0001g0011	1	223	0.0045	-6	c.787 others(21): Show c.787+894_787+899delGTTATA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	TTTATTA TTTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01891.hp2 HG02257.hp1 others(5): Show HG01070.hp2 HG01891.hp2 HG02257.hp1 HG02451.hp2 HG02896.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0203 a0001c0001t0001g0212 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0203 a0001c0001t0001g0212 a0002c0002t0001g0015 a0002c0002t0001g0122 a0002c0002t0001g0221 a0002c0002t0002g0136 a0002c0002t0002g0159	8	223	0.0359	-6	c.12 others(17): Show c.1206_*1211delTTATTA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					1139		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATA GTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp2 HG02165.hp2 others(14): Show HG00558.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03209.hp1 HG03516.hp2 HG03834.hp1 NA18980.hp1 NA18994.hp1 NA19054.hp2 NA19068.hp2 NA19072.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0002g0106 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0053	17	340	0.0500	-6	c.-93 others(21): Show c.-93+147_-93+152delGTATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189665598	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02895.hp1 others(5): Show HG02572.hp1 HG02809.hp1 HG02895.hp1 HG03098.hp2 NA18906.hp1 NA18939.hp2 NA19000.hp2 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0005c0006t0003	a0001c0001t0001g0022 a0001c0001t0003g0018 a0001c0002t0003g0018 others(1): Show a0001c0001t0001g0022 a0001c0001t0003g0018 a0001c0002t0003g0018 a0005c0006t0003g0094	8	340	0.0235	-6	c.-93 others(21): Show c.-93+191_-93+196delATATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASNS_chr7_97846677_97877408	97859073	TGCCAAA TGCCAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03927.hp1 HG04184.hp2 HG02280.hp2 HG03927.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	3	436	0.0069	-6	c.674 others(21): Show c.674-124_674-119delTTTGGC		ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	5/12						chr7	TogoVar
ASPA_chr17_3470997_3508405	3499447	CTGTACT CTGTACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(426): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0019 a0001c0002t0033 a0001c0002t0045 a0001c0003t0002 a0002c0004t0004 a0002c0004t0007 a0003c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(368): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0351 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0352 a0001c0001t0002g0359 a0001c0001t0002g0364 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0073 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0214 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0003g0242 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0003g0293 a0001c0001t0003g0301 a0001c0001t0003g0309 a0001c0001t0003g0357 a0001c0001t0004g0006 a0001c0001t0004g0030 a0001c0001t0004g0064 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0263 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0311 a0001c0001t0004g0315 a0001c0001t0004g0318 a0001c0001t0004g0322 a0001c0001t0004g0366 a0001c0001t0004g0368 a0001c0001t0005g0068 a0001c0001t0005g0110 a0001c0001t0005g0369 a0001c0001t0006g0139 a0001c0001t0006g0167 a0001c0001t0006g0197 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0319 a0001c0001t0006g0341 a0001c0001t0006g0365 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0001t0007g0095 a0001c0001t0007g0186 a0001c0001t0007g0256 a0001c0001t0007g0314 a0001c0001t0009g0180 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0210 a0001c0001t0009g0294 a0001c0001t0009g0330 a0001c0001t0009g0332 a0001c0001t0010g0005 a0001c0001t0010g0008 a0001c0001t0010g0209 a0001c0001t0010g0258 a0001c0001t0010g0338 a0001c0001t0011g0027 a0001c0001t0011g0140 a0001c0001t0011g0213 a0001c0001t0011g0277 a0001c0001t0012g0149 a0001c0001t0012g0151 a0001c0001t0012g0175 a0001c0001t0012g0326 a0001c0001t0014g0141 a0001c0001t0014g0270 a0001c0001t0014g0329 a0001c0001t0015g0147 a0001c0001t0015g0203 a0001c0001t0015g0221 a0001c0001t0016g0339 a0001c0001t0016g0353 a0001c0001t0018g0001 a0001c0001t0019g0373 a0001c0001t0020g0265 a0001c0001t0020g0356 a0001c0001t0021g0031 a0001c0001t0022g0089 a0001c0001t0022g0298 a0001c0001t0024g0106 a0001c0001t0029g0033 a0001c0001t0030g0004 a0001c0001t0031g0103 a0001c0001t0032g0002 a0001c0001t0034g0278 a0001c0001t0035g0144 a0001c0001t0036g0336 a0001c0001t0037g0340 a0001c0001t0038g0108 a0001c0001t0039g0002 a0001c0001t0040g0361 a0001c0001t0041g0020 a0001c0001t0042g0101 a0001c0001t0043g0224 a0001c0001t0044g0052 a0001c0001t0046g0234 a0001c0001t0047g0088 a0001c0001t0048g0297 a0001c0001t0049g0059 a0001c0001t0050g0027 a0001c0001t0051g0196 a0001c0001t0052g0146 a0001c0001t0054g0065 a0001c0002t0002g0058 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0245 a0001c0002t0002g0313 a0001c0002t0002g0325 a0001c0002t0003g0268 a0001c0002t0004g0040 a0001c0002t0004g0346 a0001c0002t0005g0014 a0001c0002t0005g0019 a0001c0002t0005g0042 a0001c0002t0005g0046 a0001c0002t0005g0063 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0085 a0001c0002t0005g0096 a0001c0002t0005g0154 a0001c0002t0005g0163 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0198 a0001c0002t0005g0216 a0001c0002t0005g0237 a0001c0002t0005g0262 a0001c0002t0005g0286 a0001c0002t0005g0331 a0001c0002t0005g0342 a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0006g0112 a0001c0002t0006g0191 a0001c0002t0006g0199 a0001c0002t0006g0201 a0001c0002t0006g0282 a0001c0002t0006g0291 a0001c0002t0007g0014 a0001c0002t0007g0016 a0001c0002t0007g0046 a0001c0002t0007g0138 a0001c0002t0007g0200 a0001c0002t0007g0215 a0001c0002t0007g0281 a0001c0002t0007g0292 a0001c0002t0007g0307 a0001c0002t0007g0324 a0001c0002t0007g0345 a0001c0002t0017g0045 a0001c0002t0019g0370 a0001c0002t0033g0238 a0001c0002t0045g0371 a0001c0003t0002g0003 a0001c0003t0002g0022 a0001c0003t0002g0127 a0001c0003t0002g0231 a0001c0003t0002g0257 a0001c0003t0002g0300 a0002c0004t0004g0317 a0002c0004t0007g0328 a0003c0005t0002g0076	429	450	0.9533	-6	c.36 others(15): Show c.367_*372delGTACTT		ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	6/6				367	INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50508698	CGTGTGT CGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02109.hp1 others(8): Show HG01261.hp1 HG01433.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009	11	372	0.0296	-6	c.30 others(17): Show c.3026_*3031delACACAC		ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding					2904		chr19	TogoVar
ASPHD1_chr16_29895488_29911056	29910397	AAATAAT AAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02451.hp1 others(6): Show HG01891.hp2 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02976.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065	9	394	0.0228	-6	c.45 others(17): Show c.4501_*4506delAATAAT		ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding					4342		chr16	TogoVar
ASPHD2_chr22_26424260_26450015	26438642	TATACAC TATACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02280.hp1 HG03453.hp1 others(2): Show HG00558.hp1 HG02280.hp1 HG03453.hp1 NA18981.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 a0001c0002t0034	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0003g0180 others(2): Show a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0003g0180 a0001c0001t0038g0181 a0001c0002t0034g0088	5	428	0.0117	-6	c.887 others(23): Show c.887-3811_887-3806delCATACA		ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61539699	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00735.hp2 others(43): Show HG00423.hp2 HG00558.hp2 HG00735.hp2 HG01099.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03688.hp1 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19068.hp2 NA19070.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023 a0001c0001t0025 a0001c0001t0034 a0001c0002t0026 a0006c0010t0006	a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0193 others(43): Show a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0193 a0001c0001t0002g0058 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0240 a0001c0001t0005g0020 a0001c0001t0005g0030 a0001c0001t0005g0076 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0171 a0001c0001t0005g0180 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0061 a0001c0001t0006g0097 a0001c0001t0006g0101 a0001c0001t0006g0109 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0127 a0001c0001t0006g0133 a0001c0001t0007g0179 a0001c0001t0008g0207 a0001c0001t0008g0214 a0001c0001t0008g0234 a0001c0001t0008g0237 a0001c0001t0008g0242 a0001c0001t0008g0244 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0023g0137 a0001c0001t0025g0189 a0001c0001t0034g0257 a0001c0002t0026g0063 a0006c0010t0006g0081	46	258	0.1783	-6	c.176 others(25): Show c.1764+8366_1764+8371delACACAC		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61590550	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG02074.hp1 others(16): Show HG01167.hp1 HG01192.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02300.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG04115.hp2 NA18940.hp2 NA18942.hp2 NA18955.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA19067.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0049 others(16): Show a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0161 a0001c0001t0002g0058 a0001c0001t0028g0055 a0001c0002t0002g0059 a0001c0002t0002g0069 a0001c0002t0002g0166 a0001c0002t0003g0225	19	258	0.0736	-6	c.977 others(23): Show c.977-6527_977-6522delCACACA		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61603191	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG02145.hp1 others(6): Show HG00741.hp2 HG01167.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0004g0252 others(6): Show a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0004g0252 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0011g0250 a0001c0001t0011g0251 a0001c0001t0015g0009 a0001c0002t0002g0194	9	258	0.0349	-6	c.976 others(25): Show c.976+15781_976+15786delTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01069.hp2 others(27): Show HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01256.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02809.hp2 HG02965.hp2 HG03942.hp1 HG04228.hp2 NA18942.hp1 NA18977.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp1 NA19082.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0005t0001 a0002c0003t0002 a0006c0010t0006	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 others(27): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0002g0122 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0127 a0001c0002t0002g0121 a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0005t0001g0118 a0002c0003t0002g0075 a0006c0010t0006g0081	30	258	0.1163	-6	c.103 others(25): Show c.103+10069_103+10074delTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61706424	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG04184.hp2 others(2): Show HG02280.hp2 HG02486.hp2 HG04184.hp2 NA19006.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0083 a0001c0001t0001g0156 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0156 a0001c0001t0001g0187 a0001c0002t0002g0158 a0001c0005t0001g0157	5	258	0.0194	-6	c.103 others(23): Show c.103+7839_103+7844delCTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASPM_chr1_197079127_197151669	197126462	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0008 others(13): Show a0001 a0002 a0008 a0009 a0011 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0029 a0031 a0032 a0035	a0001c0001 a0001c0003 a0001c0022 others(18): Show a0001c0001 a0001c0003 a0001c0022 a0001c0026 a0001c0034 a0001c0045 a0002c0002 a0008c0014 a0009c0015 a0011c0016 a0015c0018 a0017c0021 a0018c0020 a0019c0017 a0021c0049 a0022c0047 a0023c0046 a0029c0036 a0031c0035 a0032c0037 a0035c0048	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(20): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0008 a0001c0022t0001 a0001c0026t0001 a0001c0034t0001 a0001c0045t0001 a0002c0002t0001 a0008c0014t0001 a0009c0015t0001 a0011c0016t0001 a0015c0018t0001 a0017c0021t0001 a0018c0020t0001 a0019c0017t0001 a0021c0049t0001 a0022c0047t0001 a0023c0046t0001 a0029c0036t0001 a0031c0035t0001 a0032c0037t0001 a0035c0048t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0008g0194 a0001c0022t0001g0173 a0001c0026t0001g0043 a0001c0034t0001g0180 a0001c0045t0001g0208 a0002c0002t0001g0175 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0011c0016t0001g0009 a0015c0018t0001g0032 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0019c0017t0001g0189 a0019c0017t0001g0190 a0021c0049t0001g0214 a0022c0047t0001g0134 a0023c0046t0001g0131 a0029c0036t0001g0196 a0031c0035t0001g0209 a0032c0037t0001g0197 a0035c0048t0001g0135	140	296	0.4730	-6	c.293 others(25): Show c.2937-1277_2937-1272delCTTTTT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	10/27						chr1	TogoVar
ASPM_chr1_197079127_197151669	197145845	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0011 others(6): Show a0001 a0002 a0011 a0016 a0020 a0024 a0026 a0030 a0036	a0001c0022 a0001c0039 a0002c0002 others(8): Show a0001c0022 a0001c0039 a0002c0002 a0002c0040 a0011c0016 a0016c0023 a0020c0019 a0024c0044 a0026c0042 a0030c0041 a0036c0027	a0001c0022t0001 a0001c0039t0001 a0002c0002t0001 others(9): Show a0001c0022t0001 a0001c0039t0001 a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0011c0016t0001 a0016c0023t0001 a0020c0019t0001 a0024c0044t0001 a0026c0042t0001 a0030c0041t0001 a0036c0027t0001	a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0039t0001g0172 others(46): Show a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0039t0001g0172 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0011c0016t0001g0009 a0016c0023t0001g0030 a0020c0019t0001g0031 a0024c0044t0001g0167 a0026c0042t0001g0143 a0030c0041t0001g0142 a0036c0027t0001g0139	72	296	0.2432	-6	c.297 others(21): Show c.297+290_297+295delATATAT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27						chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69962199	GACACAC GACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01358.hp1 others(12): Show HG01167.hp2 HG01169.hp1 HG01358.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02683.hp1 HG03471.hp2 HG04199.hp2 NA18970.hp2 NA19087.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0013g0000	15	464	0.0323	-6	c.-76 others(15): Show c.-769_-764delGTGTGT		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					569		chr2	TogoVar
ASPSCR1_chr17_81972629_82022406	82001079	TCTGTGG TCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18952.hp1 NA18998.hp2 HG02155.hp1 NA18952.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0014t0001g0185 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0014t0001g0185	3	366	0.0082	-6	c.933 others(23): Show c.933+4237_933+4242delTGGCTG		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr17	TogoVar

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