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
ATF7IP_chr12_14360682_14507930	14473288	C C	CTGTATGT others(7): Show CTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01516.hp2 HG01517.hp1 others(3): Show HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02895.hp1 HG03491.hp2 NA18946.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0006 a0003c0003 a0007c0010 a0002c0006 a0003c0003 a0007c0010	a0002c0006t0008 a0003c0003t0018 a0007c0010t0002 a0002c0006t0008 a0003c0003t0018 a0007c0010t0002	a0002c0006t0008g0217 a0002c0006t0008g0220 a0003c0003t0018g0153 others(3): Show a0002c0006t0008g0217 a0002c0006t0008g0220 a0003c0003t0018g0153 a0007c0010t0002g0011 a0007c0010t0002g0022 a0007c0010t0002g0049	6	346	0.0173	14	c.286 others(33): Show c.2863-2601_2863-2600insGTATGTGTGTGTGT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494284	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03490.hp1 HG03831.hp2 others(4): Show HG03453.hp2 HG03490.hp1 HG03831.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0003c0003t0035	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0050 others(4): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0003g0098 a0001c0001t0033g0093 a0003c0003t0035g0343	7	346	0.0202	14	c.328 others(33): Show c.3281-1910_3281-1897dupATATATATATATAT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494333	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0049 a0007c0010t0002g0049	1	346	0.0029	14	c.328 others(33): Show c.3281-1897_3281-1896insATATATATATATGT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494333	A A	ATATATAT others(7): Show ATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0010 a0005c0007t0010	a0005c0007t0010g0320 a0005c0007t0010g0320	1	346	0.0029	14	c.328 others(33): Show c.3281-1897_3281-1896insATATATATATGTGT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494333	A A	ATATATAT others(7): Show ATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0221 a0002c0006t0008g0221	1	346	0.0029	14	c.328 others(33): Show c.3281-1897_3281-1896insATATATATGTGTGT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494333	A A	ATATATAT others(7): Show ATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0334 a0003c0005t0007g0334	1	346	0.0029	14	c.328 others(33): Show c.3281-1897_3281-1896insATATATGTGTGTGT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7_chr12_53507054_53631382	53529710	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(60): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00673.hp1 HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01928.hp1 HG01934.hp2 HG02015.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp1 HG04228.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0056 others(60): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0003g0184 a0001c0001t0004g0163 a0001c0001t0016g0308 a0001c0001t0018g0273 a0001c0001t0019g0290 a0001c0001t0020g0316 a0001c0001t0023g0302 a0001c0001t0026g0298 a0001c0001t0028g0224 a0001c0001t0029g0236	63	330	0.1909	14	c.927 others(31): Show c.927+2020_927+2033dupGTGTGTGTGTGTGT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53529710	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02809.hp1 others(3): Show HG02145.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0155	6	330	0.0182	14	c.927 others(31): Show c.927+2033_927+2034insGTGTGTGTGTGTAT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53529734	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18984.hp1 NA19088.hp1 NA18947.hp1 NA18984.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0144	3	330	0.0091	14	c.927 others(31): Show c.927+2009_927+2010insATGTGTGTGTGTGT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53542107	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	330	0.0030	14	c.264 others(31): Show c.264+1209_264+1222dupAAAAAAAAAAAAAA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	4/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53546375	A A	AAAAAAAC others(7): Show AAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(191): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0008 a0001c0003t0030 a0002c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(191): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0111 a0001c0001t0003g0165 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0221 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0004g0025 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0012g0254 a0001c0001t0012g0284 a0001c0001t0014g0030 a0001c0001t0016g0308 a0001c0001t0017g0173 a0001c0001t0018g0273 a0001c0001t0019g0290 a0001c0001t0020g0316 a0001c0001t0022g0169 a0001c0001t0023g0302 a0001c0001t0024g0239 a0001c0001t0025g0315 a0001c0001t0027g0194 a0001c0001t0029g0236 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0003g0189 a0001c0002t0005g0159 a0001c0002t0005g0166 a0001c0002t0005g0171 a0001c0002t0005g0172 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0003t0001g0235 a0001c0003t0008g0227 a0001c0003t0008g0228 a0001c0003t0008g0230 a0001c0003t0030g0330 a0002c0004t0001g0208	194	330	0.5879	14	c.146 others(31): Show c.146-2941_146-2928dupGTTTTTTGTTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	3/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53546383	A A	AAAAAACA others(7): Show AAAAAACAAAAAACG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02723.hp1 HG01167.hp1 HG01169.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	3	330	0.0091	14	c.146 others(31): Show c.146-2936_146-2935insCGTTTTTTGTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	3/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02055.hp1 others(2): Show HG01255.hp2 HG01891.hp2 HG02055.hp1 HG02148.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0001t0001 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0197 a0001c0001t0001g0245 a0001c0001t0001g0294 others(2): Show a0001c0001t0001g0197 a0001c0001t0001g0245 a0001c0001t0001g0294 a0001c0001t0007g0138 a0001c0003t0001g0235	5	330	0.0152	14	c.48+ others(31): Show c.48+13573_48+13586dupTTTTTTTTTTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587820	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03017.hp2 NA18998.hp1 HG01070.hp2 HG03017.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0040 a0001c0001t0001g0255 a0001c0001t0025g0315 a0001c0001t0001g0040 a0001c0001t0001g0255 a0001c0001t0025g0315	3	330	0.0091	14	c.48+ others(31): Show c.48+13119_48+13132dupATATATATATATAT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04199.hp2 HG02559.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0060 a0001c0005t0001g0068 a0001c0001t0001g0060 a0001c0005t0001g0068	2	330	0.0061	14	c.48+ others(31): Show c.48+13109_48+13110insAATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATG10_chr5_81967023_82261133	82161696	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01167.hp2 others(30): Show HG00323.hp2 HG00597.hp2 HG01167.hp2 HG01256.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02895.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 NA18906.hp2 NA18952.hp2 NA18964.hp1 NA18974.hp1 NA18986.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(15): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0041 a0001c0001t0044 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0035 a0002c0002t0045 a0003c0003t0001 a0004c0004t0002 a0004c0004t0013 a0007c0007t0001	a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 others(30): Show a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0014g0217 a0001c0001t0018g0168 a0001c0001t0020g0153 a0001c0001t0041g0012 a0001c0001t0044g0163 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0004g0080 a0002c0002t0004g0109 a0002c0002t0006g0064 a0002c0002t0006g0065 a0002c0002t0006g0087 a0002c0002t0006g0090 a0002c0002t0006g0095 a0002c0002t0008g0091 a0002c0002t0035g0063 a0002c0002t0045g0072 a0003c0003t0001g0189 a0003c0003t0001g0206 a0004c0004t0002g0187 a0004c0004t0013g0196 a0007c0007t0001g0204	33	226	0.1460	14	c.217 others(31): Show c.217-2679_217-2666dupCACACACACACACA		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82254899	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0057 a0002c0002t0033g0057	1	226	0.0044	14	c.84 others(23): Show c.845_*858dupGTGTGTGTGTGTGT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	8/8				1497	INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	366	0.0027	14	c.222 others(31): Show c.222-5493_222-5492insATATATATATATTT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	366	0.0027	14	c.222 others(31): Show c.222-5506_222-5493dupATATATATATATAT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233286621	C C	CATTTTTT others(7): Show CATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03130.hp2 HG03491.hp1 others(8): Show HG01192.hp2 HG03130.hp2 HG03491.hp1 HG03669.hp1 HG04228.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0023 a0002c0002t0002 a0001c0001t0004 a0001c0001t0023 a0002c0002t0002	a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0090 others(8): Show a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0090 a0001c0001t0004g0102 a0001c0001t0004g0106 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0155 a0001c0001t0004g0193 a0001c0001t0023g0110 a0002c0002t0002g0271	11	354	0.0311	14	c.120 others(33): Show c.1204-3233_1204-3232insATTTTTTTTTTTTT		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17						chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233286643	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	354	0.0028	14	c.120 others(33): Show c.1204-3211_1204-3210insTTTTTTTTTTTTTG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17						chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289377	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01070.hp1 others(19): Show HG00140.hp1 HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG02071.hp2 HG02145.hp1 HG02300.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp2 HG03490.hp1 HG04184.hp2 NA18948.hp1 NA18971.hp1 NA18972.hp1 NA18987.hp1 NA19079.hp2 NA19081.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0005 others(2): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014	a0001c0001t0003g0020 a0002c0002t0002g0027 a0002c0002t0002g0030 others(15): Show a0001c0001t0003g0020 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0002g0215 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0232 a0002c0002t0005g0013 a0002c0002t0005g0030 a0002c0002t0005g0214 a0002c0002t0005g0256 a0002c0002t0006g0254 a0002c0002t0006g0272 a0002c0002t0006g0273 a0002c0002t0006g0274 a0002c0002t0006g0275 a0002c0002t0014g0255	22	354	0.0622	14	c.120 others(31): Show c.1204-458_1204-445dupTGTGTGTGTGTGTG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGTG others(7): Show TGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0047 a0001c0001t0003g0048	2	354	0.0057	14	c.120 others(31): Show c.1204-445_1204-444insTGTGTGAGAGAGAG		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233296608	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0204 a0002c0004t0002g0204	1	354	0.0028	14	c.22 others(25): Show c.2258_*2259insGTGTGTGTGTGTGT		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding					940		chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233296645	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	354	0.0028	14	c.22 others(25): Show c.2295_*2296insTGTGTGTGTGTGTA		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding					977		chr2	TogoVar
ATG2A_chr11_64889546_64922209	64913121	G G	GCTCTGGA others(7): Show GCTCTGGAGGCTCTT	frameshift_variant frameshift_variant	HIGH	NA18951.hp1 NA18951.hp1	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0001 a0019c0036t0001	a0019c0036t0001g0172 a0019c0036t0001g0172	1	372	0.0027	14	c.728 others(21): Show c.728_741dupAAGAGCCTCCAGAG	p.Pro others(5): Show p.Pro248fs	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	6/41	815/6318	741/5817	247/1938			chr11	TogoVar
ATG2A_chr11_64889546_64922209	64920943	C C	CTATATAT others(7): Show CTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01928.hp2 HG01952.hp2 others(5): Show HG00597.hp2 HG01928.hp2 HG01952.hp2 HG02165.hp2 NA18957.hp2 NA18961.hp2 NA18994.hp2 NA19058.hp1	a0001 a0006 a0027 others(1): Show a0001 a0006 a0027 a0029	a0001c0001 a0006c0047 a0027c0043 others(1): Show a0001c0001 a0006c0047 a0027c0043 a0029c0045	a0001c0001t0001 a0006c0047t0001 a0027c0043t0001 others(1): Show a0001c0001t0001 a0006c0047t0001 a0027c0043t0001 a0029c0045t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0167 a0001c0001t0001g0197 a0006c0047t0001g0211 a0027c0043t0001g0168 a0029c0045t0001g0183	8	372	0.0215	14	c.-38 others(25): Show c.-3822_-3809dupTATATATATATATA		ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding					3735		chr11	TogoVar
ATG2B_chr14_96274195_96368341	96295727	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(72): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01257.hp1 HG01346.hp2 HG01515.hp1 HG01928.hp2 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19072.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0019 a0023	a0001c0002 a0001c0003 a0001c0012 others(6): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0004c0006 a0006c0007 a0007c0009 a0019c0034 a0023c0036	a0001c0002t0001 a0001c0003t0005 a0001c0003t0023 others(17): Show a0001c0002t0001 a0001c0003t0005 a0001c0003t0023 a0001c0003t0045 a0001c0012t0024 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0014 a0002c0001t0017 a0002c0001t0019 a0002c0001t0028 a0002c0001t0041 a0002c0001t0047 a0002c0001t0048 a0004c0006t0013 a0006c0007t0008 a0007c0009t0002 a0019c0034t0014 a0023c0036t0002	a0001c0002t0001g0300 a0001c0002t0001g0316 a0001c0002t0001g0322 others(67): Show a0001c0002t0001g0300 a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0329 a0001c0003t0005g0206 a0001c0003t0023g0245 a0001c0003t0045g0246 a0001c0012t0024g0093 a0002c0001t0002g0006 a0002c0001t0002g0110 a0002c0001t0002g0111 a0002c0001t0002g0120 a0002c0001t0002g0122 a0002c0001t0002g0126 a0002c0001t0002g0127 a0002c0001t0002g0134 a0002c0001t0002g0135 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0141 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0146 a0002c0001t0002g0147 a0002c0001t0002g0148 a0002c0001t0002g0150 a0002c0001t0002g0152 a0002c0001t0002g0153 a0002c0001t0002g0156 a0002c0001t0002g0157 a0002c0001t0002g0181 a0002c0001t0002g0182 a0002c0001t0002g0183 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0191 a0002c0001t0002g0235 a0002c0001t0002g0241 a0002c0001t0003g0123 a0002c0001t0004g0112 a0002c0001t0004g0115 a0002c0001t0004g0116 a0002c0001t0004g0117 a0002c0001t0004g0118 a0002c0001t0014g0121 a0002c0001t0014g0144 a0002c0001t0014g0145 a0002c0001t0017g0138 a0002c0001t0017g0194 a0002c0001t0019g0014 a0002c0001t0019g0016 a0002c0001t0028g0015 a0002c0001t0041g0189 a0002c0001t0047g0188 a0002c0001t0048g0114 a0004c0006t0013g0013 a0004c0006t0013g0331 a0006c0007t0008g0001 a0006c0007t0008g0080 a0006c0007t0008g0081 a0006c0007t0008g0082 a0006c0007t0008g0089 a0007c0009t0002g0119 a0007c0009t0002g0125 a0007c0009t0002g0128 a0007c0009t0002g0129 a0007c0009t0002g0131 a0007c0009t0002g0192 a0019c0034t0014g0154 a0023c0036t0002g0130	75	356	0.2107	14	c.514 others(31): Show c.5140-181_5140-168dupTGTGTGTGTGTGTG		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	34/41						chr14	TogoVar
ATG3_chr3_112527510_112566962	112544658	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01071.hp2 HG01243.hp1 others(35): Show HG00609.hp1 HG01071.hp2 HG01243.hp1 HG01928.hp2 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02738.hp2 HG03098.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 NA18956.hp1 NA18963.hp1 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0002g0198 a0003c0003t0001g0183	38	376	0.1011	14	c.344 others(29): Show c.344-553_344-552insTTTTTTTTTTTTTT		ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	5/11						chr3	TogoVar
ATG3_chr3_112527510_112566962	112544658	G G	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	376	0.0027	14	c.344 others(29): Show c.344-553_344-552insTTTTTTTTTTTTTC		ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	5/11						chr3	TogoVar
ATG4A_chrX_108086778_108159671	108115118	C C	CATGTGTG others(7): Show CATGTGTGCATGTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG02723.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0150 a0001c0001t0003g0151	2	249	0.0080	14	c.11- others(31): Show c.11-10959_11-10958insATGTGTGCATGTAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	1/12						chrX	TogoVar
ATG4A_chrX_108086778_108159671	108141062	A A	ATATACAT others(7): Show ATATACATATATACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18944.hp1 NA19056.hp1 HG02922.hp1 NA18944.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0172 a0001c0001t0002g0188 a0001c0001t0002g0189	3	249	0.0121	14	c.814 others(31): Show c.814+2875_814+2876insCATATATACGTATA		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4A_chrX_108086778_108159671	108141071	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18989.hp1 HG02071.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0044 a0001c0001t0001g0089	2	249	0.0080	14	c.814 others(31): Show c.814+2905_814+2918dupATATATATATATAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4A_chrX_108086778_108159671	108148020	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19060.hp1 HG02300.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0069	2	249	0.0080	14	c.815 others(31): Show c.815-2089_815-2076dupATATATATATATAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4B_chr2_241632693_241678857	241643663	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	410	0.0024	14	c.10+ others(29): Show c.10+5944_10+5957dupGTGTGTGTGTGTGT		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG4B_chr2_241632693_241678857	241643692	T T	TCCCCCCC others(7): Show TCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp2 HG03942.hp2 others(2): Show HG01515.hp1 HG01943.hp2 HG03942.hp2 NA18954.hp1 NA18959.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0004 a0001c0002 a0001c0005 a0003c0004	a0001c0002t0003 a0001c0005t0005 a0003c0004t0007 a0001c0002t0003 a0001c0005t0005 a0003c0004t0007	a0001c0002t0003g0188 a0001c0005t0005g0203 a0003c0004t0007g0191 others(2): Show a0001c0002t0003g0188 a0001c0005t0005g0203 a0003c0004t0007g0191 a0003c0004t0007g0194 a0003c0004t0007g0195	5	410	0.0122	14	c.10+ others(29): Show c.10+5968_10+5969insCCCCCCCCCCCCCC		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12						chr2	TogoVar
ATG4D_chr19_10538904_10558418	10548003	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	406	0.0074	14	c.835 others(29): Show c.835+782_835+795dupTTTTTTTTTTTTTT		ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG5_chr6_106179476_106330760	106201275	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	358	0.0028	14	c.691 others(29): Show c.691+683_691+696dupCACACACACACACA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	7/7						chr6	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCAC others(7): Show TCTCTCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	292	0.0034	14	c.-47 others(25): Show c.-4790_-4789insCTCTCACACACACA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding					4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(7): Show TCTCTCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01516.hp2 others(3): Show HG00733.hp2 HG01074.hp2 HG01516.hp2 HG03516.hp1 NA18998.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0114 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0002t0007g0098	6	292	0.0206	14	c.-47 others(25): Show c.-4790_-4789insCTCTCTCACACACA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding					4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(7): Show TCTCTCTCTCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02080.hp2 HG02698.hp1 others(5): Show HG01884.hp2 HG02080.hp2 HG02698.hp1 HG03491.hp1 NA18946.hp1 NA18947.hp2 NA19005.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0033	a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0137 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0003g0106 a0001c0001t0005g0071 a0001c0001t0020g0060 a0001c0001t0033g0063	8	292	0.0274	14	c.-47 others(25): Show c.-4790_-4789insCTCTCTCTCACACA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding					4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02257.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG02257.hp2 HG02970.hp1 HG04184.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0017 a0003c0005t0001	a0001c0001t0001g0044 a0001c0001t0001g0128 a0001c0001t0002g0066 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0128 a0001c0001t0002g0066 a0001c0002t0017g0120 a0003c0005t0001g0026 a0003c0005t0001g0103	6	292	0.0206	14	c.-47 others(25): Show c.-4790_-4789insCTCTCTCTCTCACA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding					4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02451.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG02451.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 others(1): Show a0001c0001t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018	4	292	0.0137	14	c.-47 others(25): Show c.-4790_-4789insCTCTCTCTCTCTCA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding					4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11366971	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp1 HG02145.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0034 a0001c0001t0019 a0001c0002t0034	a0001c0001t0019g0194 a0001c0002t0034g0013 a0001c0001t0019g0194 a0001c0002t0034g0013	2	292	0.0069	14	c.187 others(33): Show c.1875+2267_1875+2280dupGTGTGTGTGTGTGT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp2 HG02647.hp2 others(4): Show HG01496.hp1 HG02572.hp2 HG02647.hp2 HG03139.hp2 NA18747.hp1 NA18954.hp2 NA19058.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0010 a0001c0001 a0001c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0049 a0001c0002t0001 a0007c0010t0001	a0001c0001t0001g0227 a0001c0001t0002g0217 a0001c0001t0002g0220 others(4): Show a0001c0001t0001g0227 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0019g0130 a0001c0001t0049g0001 a0001c0002t0001g0185 a0007c0010t0001g0244	7	292	0.0240	14	c.187 others(33): Show c.1876-1940_1876-1927dupTTTTTTTTTTTTTT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11411619	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	292	0.0034	14	c.195 others(35): Show c.1957-15169_1957-15156dupAAAAAAAAAAAAAA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11469988	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0271 a0001c0002t0035g0271	1	292	0.0034	14	c.207 others(35): Show c.2079+43070_2079+43083dupAAAAAAAAAAAAAA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475868	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp2 HG02280.hp2 others(16): Show HG00673.hp1 HG02132.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp1 HG03225.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18969.hp2 NA18981.hp1 NA18994.hp2 NA19005.hp1 NA19058.hp1 NA19062.hp2 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0010 a0001c0001 a0001c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0045 a0001c0001t0049 a0001c0002t0001 a0007c0010t0001	a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0139 others(16): Show a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0139 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0064 a0001c0001t0002g0219 a0001c0001t0002g0241 a0001c0001t0003g0042 a0001c0001t0003g0129 a0001c0001t0004g0184 a0001c0001t0011g0049 a0001c0001t0045g0274 a0001c0001t0049g0001 a0001c0002t0001g0065 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0001g0247 a0007c0010t0001g0244	19	292	0.0651	14	c.207 others(35): Show c.2079+48969_2079+48982dupACACACACACACAC		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475907	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	292	0.0034	14	c.207 others(35): Show c.2079+48982_2079+48983insACACACACACACCC		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11478989	A A	AACACACA others(7): Show AACACACACAAACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01258.hp2 others(3): Show HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01978.hp2 NA18747.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0040 a0001c0001t0001 a0001c0002t0001 a0001c0002t0040	a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0002t0001g0017 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0185 a0001c0002t0040g0141	6	292	0.0206	14	c.207 others(35): Show c.2079+52072_2079+52073insAACACACACACACA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar

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