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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Select column to sort.

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Results per page.

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	status	chr	external
OR52E8_chr11_5851749_5862690	5856749	T T	A A	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(166): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0003 a0000c0006 others(2): Show a0000c0002 a0000c0003 a0000c0006 a0000c0009 a0000c0014	a0000c0002t0000 a0000c0003t0000 a0000c0006t0000 others(2): Show a0000c0002t0000 a0000c0003t0000 a0000c0006t0000 a0000c0009t0000 a0000c0014t0000	a0000c0002t0000g0000 a0000c0003t0000g0000 a0000c0006t0000g0000 others(2): Show a0000c0002t0000g0000 a0000c0003t0000g0000 a0000c0006t0000g0000 a0000c0009t0000g0000 a0000c0014t0000g0000	169	436	0.3876	0	c.942 others(3): Show c.942A>T	p.Ter others(11): Show p.Ter314Tyrext*?	OR52E8	ENSG00000183269.6	transcript	ENST00000537935.2	protein_coding	1/1	942/942	942/942	314/313		chr11	TogoVar
OR52M1_chr11_4540191_4551144	4545229	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00639.hp1 HG01891.hp1 others(8): Show HG00621.hp2 HG00639.hp1 HG01891.hp1 HG02129.hp2 HG02486.hp1 HG03540.hp1 NA18965.hp1 NA18977.hp1 NA18981.hp1 NA18986.hp1 NA19088.hp2	a0003 a0003	a0003c0005 a0003c0011 a0003c0005 a0003c0011	a0003c0005t0000 a0003c0011t0000 a0003c0005t0000 a0003c0011t0000	a0003c0005t0000g0000 a0003c0011t0000g0000 a0003c0005t0000g0000 a0003c0011t0000g0000	11	430	0.0256	-1	c.41d others(3): Show c.41delT	p.Phe others(4): Show p.Phe14fs	OR52M1	ENSG00000197790.1	transcript	ENST00000360213.1	protein_coding	1/1	41/954	41/954	14/317	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR5AR1_chr11_56658686_56669618	56663740	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): 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 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0000 a0001c0003t0000 a0001c0005t0000 others(2): Show a0001c0001t0000 a0001c0003t0000 a0001c0005t0000 a0001c0009t0000 a0001c0010t0000	a0001c0001t0000g0000 a0001c0003t0000g0000 a0001c0005t0000g0000 others(2): Show a0001c0001t0000g0000 a0001c0003t0000g0000 a0001c0005t0000g0000 a0001c0009t0000g0000 a0001c0010t0000g0000	303	432	0.7014	0	c.55C others(2): Show c.55C>T	p.Gln others(3): Show p.Gln19*	OR5AR1	ENSG00000172459.5	transcript	ENST00000624596.2	protein_coding	1/1	55/933	55/933	19/310		chr11	TogoVar
OR5M1_chr11_56604236_56619874	56613070	CCAGA CCAGA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show HG00140.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02258.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18953.hp2 NA18959.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19068.hp1 NA19075.hp2 NA19076.hp2 NA19079.hp1 NA19083.hp2 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0002 a0003c0003t0021 a0003c0012t0002 a0003c0003t0002 a0003c0003t0021 a0003c0012t0002	a0003c0003t0002g0002 a0003c0003t0002g0011 a0003c0003t0002g0013 others(6): Show a0003c0003t0002g0002 a0003c0003t0002g0011 a0003c0003t0002g0013 a0003c0003t0002g0026 a0003c0003t0002g0029 a0003c0003t0002g0070 a0003c0003t0002g0091 a0003c0003t0021g0061 a0003c0012t0002g0069	65	386	0.1684	-4	c.429 others(11): Show c.429_432delTCTG	p.Cys others(5): Show p.Cys143fs	OR5M1	ENSG00000255012.3	transcript	ENST00000641076.1	protein_coding	2/2	467/4302	429/948	143/315		chr11	TogoVar
OR6C75_chr12_55357975_55374279	55365407	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00558.hp2 HG00597.hp1 HG02015.hp2 others(13): Show HG00558.hp2 HG00597.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG03834.hp1 NA18939.hp1 NA18953.hp1 NA18956.hp1 NA18977.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19012.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0034 a0002c0002t0003g0010 a0002c0002t0003g0034	16	454	0.0352	-1	c.305 others(4): Show c.305delT	p.Phe others(5): Show p.Phe102fs	OR6C75	ENSG00000187857.5	transcript	ENST00000641576.1	protein_coding	3/3	705/4569	305/939	102/312	INFO_REALIGN_3_PRIME	chr12	TogoVar
OR6C76_chr12_55421254_55432192	55427174	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00741.hp2 others(68): Show HG00099.hp2 HG00280.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02559.hp2 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19075.hp1 NA19080.hp1 NA19083.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0002c0004 a0000c0002 a0002c0004	a0000c0002t0000 a0002c0004t0000 a0000c0002t0000 a0002c0004t0000	a0000c0002t0000g0000 a0002c0004t0000g0000 a0000c0002t0000g0000 a0002c0004t0000g0000	71	440	0.1614	-1	c.933 others(4): Show c.933delA	p.Lys others(5): Show p.Lys311fs	OR6C76	ENSG00000185821.3	transcript	ENST00000328314.3	protein_coding	1/1	933/939	933/939	311/312	INFO_REALIGN_3_PRIME	chr12	TogoVar
OR7G3_chr19_9121012_9131950	9126022	G G	GATGGT GATGGT	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19059.hp1 NA19064.hp1 NA19074.hp2 NA19075.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0000 a0002 a0003 others(1): Show a0000 a0002 a0003 a0005	a0000c0002 a0000c0007 a0000c0014 others(3): Show a0000c0002 a0000c0007 a0000c0014 a0002c0003 a0003c0004 a0005c0006	a0000c0002t0000 a0000c0007t0000 a0000c0014t0000 others(3): Show a0000c0002t0000 a0000c0007t0000 a0000c0014t0000 a0002c0003t0000 a0003c0004t0000 a0005c0006t0000	a0000c0002t0000g0000 a0000c0007t0000g0000 a0000c0014t0000g0000 others(3): Show a0000c0002t0000g0000 a0000c0007t0000g0000 a0000c0014t0000g0000 a0002c0003t0000g0000 a0003c0004t0000g0000 a0005c0006t0000g0000	177	402	0.4403	5	c.924 others(12): Show c.924_928dupACCAT	p.Ser others(5): Show p.Ser310fs	OR7G3	ENSG00000170920.2	transcript	ENST00000305444.2	protein_coding	1/1	928/939	928/939	310/312		chr19	TogoVar
OR8G1_chr11_124236095_124259364	124250452	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	0	c.777 others(3): Show c.777C>G	p.Tyr others(4): Show p.Tyr259*	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1143/5055	777/936	259/311		chr11	TogoVar
OR8G1_chr11_124236095_124259364	124250538	TGATTTAT others(844): Show TGATTTATAGCCTGAGGAATAAAGATGTCCATGTTTCCCTGAAGAAAATG CTACAGAGAAGAACATTATTGTAAACAGTAATAATAAGAAGATGATATAT TAATCCTAAGTAGTGGACTGTTACATTGTATGAATGGATGTCTTTCACTT TAATGCATCTGTCAATAATTTTTACCATTTGGTGAGATTATATTACCATT ATTTTTTCATTTCATGACCCTTTGATGTCATTTCCCATGTGGGGTTTTAA CTCATATGTATCAATGAGACACAAATTAATATAAATACTAAAATCGACAT GAGTACATAGACTCATTAATGCCAGCCCCATGTTCTTACCTCTTTTCTTT TACACAATTGATAAAATTCAGCTCAGTTCTCAACCATAATGAAAATACCA TCTTCCAAAAGTGATACCAATCTCCCTTATTCTGTCTTTTCAATAACAAC ATAAATTATTGCAATATGATAGCTGTAATTTTAGCCTGCAGCAATCTCTT TTCTGCCTTATTCATCTATTTACCTCATTTGTCTGCTGTATTTCTTCTTT AGCAACATAATCAAAATTTCAGAATATAAGTTACATATCCGTGTATGTGT TATAATTGTGCAATCCAATATATCATCTGCTTTGCATTTTCCTATTCTAG TTTGTACTTGCCTTCAACCTACACTGGACTTCAGTCTTCATGAAGATTCC CCCGTACATGTGGTTTATTGCCACGTCTCCAGCGTCTATCATAGTTCTTG CCACCTTAGGTCCTTGAAAGCTTTTTTATTATTTCCTCATTTAAGCTAAG TATAGGAAAGCCATATGTATGTCATACTTACTTTATCTATTTATCTCTCG AA	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0004c0006 a0006c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0003t0002 a0001c0003t0026 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0012t0003 a0004c0006t0003 a0004c0006t0014 a0004c0006t0036 a0004c0006t0041 a0006c0010t0002	a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(42): Show a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0065 a0001c0002t0005g0005 a0001c0002t0005g0059 a0001c0002t0007g0009 a0001c0002t0012g0013 a0001c0002t0018g0029 a0001c0002t0018g0045 a0001c0002t0019g0030 a0001c0002t0019g0067 a0001c0002t0020g0022 a0001c0002t0025g0058 a0001c0002t0025g0060 a0001c0002t0027g0066 a0001c0002t0034g0046 a0001c0002t0035g0048 a0001c0002t0037g0068 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0021 a0001c0003t0002g0044 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0057 a0001c0003t0026g0002 a0001c0003t0038g0051 a0001c0003t0039g0016 a0001c0003t0040g0002 a0001c0012t0003g0064 a0004c0006t0003g0056 a0004c0006t0014g0014 a0004c0006t0036g0014 a0004c0006t0041g0055 a0006c0010t0002g0002	217	430	0.5047	-851	c.866 others(8): Show c.866_*780del	p.Ile others(5): Show p.Ile289fs	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	3/3	1232/5055	866/936	289/311	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8K1_chr11_56341039_56351998	56346040	T T	C C	start_lost start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0000 a0001c0002t0000 a0001c0004t0000 others(8): Show a0001c0001t0000 a0001c0002t0000 a0001c0004t0000 a0001c0005t0000 a0001c0006t0000 a0001c0007t0000 a0001c0008t0000 a0001c0009t0000 a0001c0010t0000 a0001c0011t0000 a0001c0012t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0004t0000g0000 others(8): Show a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0004t0000g0000 a0001c0005t0000g0000 a0001c0006t0000g0000 a0001c0007t0000g0000 a0001c0008t0000g0000 a0001c0009t0000g0000 a0001c0010t0000g0000 a0001c0011t0000g0000 a0001c0012t0000g0000	351	437	0.8032	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	OR8K1	ENSG00000150261.5	transcript	ENST00000279783.5	protein_coding	1/1	2/960	2/960	1/319		chr11	TogoVar
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7598): Show ATTTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGT GTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACAT ATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACT ATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCT TCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTT TGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACA AAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGT GACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAA GATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGG CAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGA GGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTT TTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCT AATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGG AGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGC AGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTAT GGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAA GGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGAC ACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCAT GTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTT GGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTA AAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTC AAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAAT ATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATA GCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAG CTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCT AGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTT ACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGT GACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGA AATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATT AAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAAC TTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTAT AATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTA TGTATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00735.hp2 HG01074.hp2 HG01167.hp2 others(38): Show HG00735.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02602.hp1 HG02738.hp1 HG03130.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp1 NA18963.hp1 NA18970.hp2 NA18984.hp2 NA18986.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19058.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0000 a0002c0003t0000	a0002c0003t0000g0000 a0002c0003t0000g0000	41	364	0.1126	7605	c.590 others(7612): Show c.590_591insATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCT CTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTG AGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTC TCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACT TACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTC TTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAG GAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACC ATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATG GGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAA TACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATT ATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGT AGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTT TAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAA TAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTC TTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAA TAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTT TTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCAC AATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGC CAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAA AAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGT GTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGA TCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTC TCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTA AATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCC TTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAA TTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCA TTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCA TATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACAT ACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAA TTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACA ATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATA TATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAAT AAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTC TGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATT CTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATC TCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGAC TGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACA TGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAA CTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCTGT CTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGT TAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTT TTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCC CTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTAC ACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTC GCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAG AATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCA GCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGT ATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTA TAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTA GAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGAT AAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTC AGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACA ACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCC AAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCAT TTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAA TGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGTGTAAACTC AATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGG AATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGG GGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACC ACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTT CAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATA ACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAA TTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTT CTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACC ATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAG AGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCT CTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAA TTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAG CTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCAT TGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAG ATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTAT AAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGT TTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAA TTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATA TGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAA TCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAAT AAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAA ATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCA AAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGAT CTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCT TTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCAT CATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCA AAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAA CACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAA GATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAAC ATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTAT TTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGA GATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTT GGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGT CCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCAT CAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAA CCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTT CCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATT TCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGA AAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTATGTATACA ATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAG AAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATT CGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCT GGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTT TAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGG AATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAAT ATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGT ACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCT TACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCT TAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCT TTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAG CAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAG AAACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTC CATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTT TCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTA TTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTG TATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCT ACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTAT TTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCA CCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCA TTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAAC TTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAAT TTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATA GTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAA GCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGA GAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTC CACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAG TTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTC AAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCA CTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATC ATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAA GTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTA AATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAA TAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTAC CTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTT TAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGAT ATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCT CTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCA GGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGA TGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGC AATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACC AATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTT CTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGT ATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCAT GACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGG CCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGC ATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTT TCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTGTCA ACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGAC ACTCGCTTCAAACAGCT	p.Leu others(7618): Show p.Leu197_Trp198insTrpIleLeuAlaCysAlaGlyIleThrPheIl eCysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaI leLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCys SerSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMe tTyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaS erValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSer LeuArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnAr gAsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrL ysMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyr TrpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLy sAsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheI leCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCys IlePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPr oGlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerG luPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLys PheAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVa lIlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspP heHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgVal GluAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHi sSerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgA laGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHis TerAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGl yPheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProL ysLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMet PheTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTy rTerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerT erHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSer SerLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPh eHisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaA snSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeu IleArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGl uPheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheI leSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLys PheAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnTh rCysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuS erProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThr TyrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIl eIleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysT yrThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArg LeuTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAs nLysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValT yrPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLys ThrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLe uAsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerP heAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPhe GlyHisValIleProProHisSerIlePheSerLeuTerGluValMetCy sTerThrCysAspPheLeuTerAsnTerSerThrThrPheLysIlePheA rgCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeu GlyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAs nAlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrP heProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThr GlyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProAr gSerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValP heTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCys LeuGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPh eArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysL euLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIle TyrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPr oTerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrP hePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCys AlaGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTy rLeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePheP heHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheVal SerAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuMetValTe rThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrL euGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIle PheGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPr oTyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuL euPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLys LysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValTh rGluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgT yrPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGln ProProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGl uThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheA laSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsn LeuAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVa lArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnM etHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGly HisArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGl uLeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisA rgCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisVal LeuAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGl uAspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysA snLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLys TerIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTe rIleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerI leProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeu TerIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAl aCysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrL euHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAsp CysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIl eGlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerG lyGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPhe IleThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIl eLeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuV alTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGly CysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLy sLeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProS erHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIle ValAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLe uIleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleL ysIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIle TyrGluAsnArgCysLeuProTyrMetTerHisArgTerMetAsnTyrVa lTyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluA snTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSer ProPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLy sAlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerG lyPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspVal AlaGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVa lTerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerS erGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCys SerLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCy sCysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysL ysSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSer SerSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVa lValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheH isValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeu LeuPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPh eIleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheS erLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThr TyrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTy rLeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProT erProProIleHisThrMetTyrValGluValSerIleIleThrPheLys IleHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVa lTerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheS erAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePhe TerTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLe uGlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValT hrArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgVal LeuSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSe rIleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysP heValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyr IleHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTe rAsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuS erGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGly SerTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAs nIleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuP heTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsn AsnPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTe rGlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnS erProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCys ThrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLe uLysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValV alGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsn ThrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTy rSerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnA snSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAla PheMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTy rValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyI leCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAla LeuPheHisThrIleLeuThrPheArgLeuSerTyrCysHisSerAsnIl eValAsnHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysS erAspThrArgPheLysGlnLeu	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	591/930	591/930	197/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7598): Show ATTTCACACCATCCTCACCTTCTGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAGTATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGT GTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACAT ATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACT ATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCT TCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTT TGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACA AAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGT GACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAA GATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGG CAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGA GGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTT TTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCT AATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGG AGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGC AGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTAT GGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAA GGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGAC ACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCAT GTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTT GGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTA AAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTC AAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAAT ATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATA GCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAG CTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCT AGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTT ACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGT GACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGA AATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATT AAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAAC TTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTAT AATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTA TGAATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0000 a0001c0013t0000 a0001c0001t0000 a0001c0013t0000	a0001c0001t0000g0000 a0001c0013t0000g0000 a0001c0001t0000g0000 a0001c0013t0000g0000	130	364	0.3571	7605	c.492 others(7612): Show c.492_493insTGCCTCTCCTATTGCCACTCCAACATTGTCAACCATTT CTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGACACTCGCT TCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCTCT GTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTGAG GATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTCTC ACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACTTA CAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTCTT CTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAGGA ACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACCAT GCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATGGG CATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAATA CCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATTAT TCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGTAG AAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTTTA AAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAATA GAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTCTT TAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAATA ATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTTTT CTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCACAA TGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGCCA GGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAAAA AATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGTGT TAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGATC AAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTCTC TTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTAAA TTACGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTGGG GCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGATTT TTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCATTT AATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCTCT TGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATTAT ATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGTTG GATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAGAG TATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTATG TCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCCTT GTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAATT TCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCATT AGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCATA TACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACATAC ACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAATT GAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACAAT TGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATATA TACACAGACATATGACTATATCAATAATATGATGATACATCAATAAATAA AAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTCTG TGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATTCT TATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATCTC ATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGACTG GATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACATG TCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAACT TGTGATTTTCTATAGAATTAATCAACAACTTTCAAGACTTTTCGCTGTCT TTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGTTA ATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTTTT CTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCCCT TTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTACAC TTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTCGC CAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAGAA TAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCAGC TTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGTAT TGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTATA AGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTAGA AAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGATAA AGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTCAG TATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAAC GTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCCAA ATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCATTT GGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAATG TCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGACGGTGTAAACTCAA TTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGGAA TCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGGGG AAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACCAC CTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTTCA GAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATAAC AACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAATT TATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTTCT GATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACCAT CTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAGAG AAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCTCT TCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAATT TTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAGCT TCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCATTG TTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAGAT TGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTATAA AAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGTTT CATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAATT ATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATATG TTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAATC TAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAATAA ATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAAAT AAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCAAA AATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGATCT TTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCTTT GGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCATCA TTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCAAA ACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAACA CCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAAGA TAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAACAT TTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTATTT CTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGAGA TGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTTGG AAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGTCC TTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCATCA ATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAACC AGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTTCC CATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATTTC ATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGAAA ACAGATGTTTGCCATATATGTGATATAGGTAAATGAATTATGAATACAAT GTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAGAA ATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATTCG CCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCTGG GTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTTTA ATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGGAA TTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAATAT TTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGTAC TTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCTTA CCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCTTA ATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCTTT AAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAGCA GTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAGAA ACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTCCA TGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTTTC CTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTATT TGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTGTA TTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCTAC TTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTATTT CCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCACC CATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCATT GACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAACTT TTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAATTT AAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATAGT AACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAAGC TTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGAGA ATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTCCA CTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAGTT ACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTCAA AATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCACT TTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATCAT GTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAAGT AACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTAAA TAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAATA AATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTACCT TTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTTTA ATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGATAT TAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCTCT TTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCAGG TGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGATG CCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGCAA TCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACCAA TGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTTCT GTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGTAT TTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCATGA CGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGGCC ATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGCAT TCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTTTC ACACCATCCTCACCTTC	p.Phe others(7618): Show p.Phe164_Arg165insCysLeuSerTyrCysHisSerAsnIleValAs nHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysSerAspT hrArgPheLysGlnLeuTrpIleLeuAlaCysAlaGlyIleThrPheIle CysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaIl eLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCysS erSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMet TyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaSe rValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSerL euArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnArg AsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrLy sMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyrT rpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLys AsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheIl eCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCysI lePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPro GlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerGl uPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLysP heAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVal IlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspPh eHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgValG luAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHis SerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgAl aGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHisT erAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGly PheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProLy sLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMetP heTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTyr TerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerTe rHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSerS erLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPhe HisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaAs nSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeuI leArgValLeuSerProPheIlePheAsnThrIleThrAspMetAlaGlu PheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheIl eSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLysP heAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnThr CysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuSe rProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThrT yrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIle IleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysTy rThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArgL euTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAsn LysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValTy rPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLysT hrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLeu AsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerPh eAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPheG lyHisValIleProProHisSerIlePheSerLeuTerGluValMetCys TerThrCysAspPheLeuTerAsnTerSerThrThrPheLysThrPheAr gCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeuG lyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAsn AlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrPh eProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThrG lyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProArg SerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValPh eTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCysL euGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPhe ArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysLe uLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIleT yrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPro TerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrPh ePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCysA laGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTyr LeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePhePh eHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheValS erAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuThrValTer ThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrLe uGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIleP heGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPro TyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuLe uPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLysL ysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValThr GluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgTy rPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGlnP roProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGlu ThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheAl aSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsnL euAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVal ArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnMe tHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGlyH isArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGlu LeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisAr gCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisValL euAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGlu AspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysAs nLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLysT erIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTer IleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerIl eProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeuT erIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAla CysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrLe uHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAspC ysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIle GlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerGl yGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPheI leThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIle LeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuVa lTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGlyC ysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLys LeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProSe rHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIleV alAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLeu IleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleLy sIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIleT yrGluAsnArgCysLeuProTyrMetTerTyrArgTerMetAsnTyrGlu TyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluAs nTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSerP roPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLys AlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerGl yPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspValA laGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVal TerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerSe rGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCysS erLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCys CysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysLy sSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSerS erSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVal ValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheHi sValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeuL euPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPhe IleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheSe rLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThrT yrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTyr LeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProTe rProProIleHisThrMetTyrValGluValSerIleIleThrPheLysI leHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVal TerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheSe rAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePheT erTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLeu GlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValTh rArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgValL euSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSer IleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysPh eValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyrI leHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTer AsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuSe rGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGlyS erTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAsn IleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuPh eTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsnA snPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTer GlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnSe rProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCysT hrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLeu LysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValVa lGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsnT hrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTyr SerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnAs nSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAlaP heMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTyr ValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyIl eCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAlaL euPheHisThrIleLeuThrPhe	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	493/930	493/930	165/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
PANK2_chr20_3884387_3934887	3889432	T T	A A	start_lost start_lost	HIGH	HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show HG00408.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02886.hp1 HG02895.hp2 HG06807.hp2 NA18953.hp2 NA18954.hp1 NA18967.hp1 NA18970.hp2 NA18980.hp1 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 others(11): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0018 a0001c0003t0019 a0001c0003t0026 a0001c0003t0027 a0001c0003t0038 a0001c0003t0062 a0001c0003t0069 a0001c0003t0142 a0001c0006t0071	a0001c0003t0001g0034 a0001c0003t0004g0001 a0001c0003t0004g0002 others(39): Show a0001c0003t0001g0034 a0001c0003t0004g0001 a0001c0003t0004g0002 a0001c0003t0004g0008 a0001c0003t0004g0025 a0001c0003t0004g0028 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0035 a0001c0003t0004g0038 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0010g0033 a0001c0003t0010g0050 a0001c0003t0013g0039 a0001c0003t0014g0001 a0001c0003t0014g0024 a0001c0003t0014g0026 a0001c0003t0014g0027 a0001c0003t0014g0029 a0001c0003t0014g0036 a0001c0003t0014g0052 a0001c0003t0018g0241 a0001c0003t0019g0002 a0001c0003t0026g0002 a0001c0003t0026g0008 a0001c0003t0026g0037 a0001c0003t0027g0043 a0001c0003t0027g0049 a0001c0003t0038g0023 a0001c0003t0062g0053 a0001c0003t0069g0051 a0001c0003t0142g0022 a0001c0006t0071g0044	46	422	0.1090	0	c.2T> others(1): Show c.2T>A	p.Leu others(2): Show p.Leu1?	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/7	46/8020	2/1383	1/460		chr20	TogoVar
PBOV1_chr6_138210986_138223491	138218046	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01099.hp1 HG01109.hp2 HG01255.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18977.hp1 NA18978.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0002 a0000c0004	a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 others(3): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 a0000c0002t0010 a0000c0002t0020 a0000c0004t0002	a0000c0002t0002g0000 a0000c0002t0005g0000 a0000c0002t0009g0000 others(3): Show a0000c0002t0002g0000 a0000c0002t0005g0000 a0000c0002t0009g0000 a0000c0002t0010g0000 a0000c0002t0020g0000 a0000c0004t0002g0000	90	384	0.2344	1	c.349 others(4): Show c.349dupC	p.Leu others(5): Show p.Leu117fs	PBOV1	ENSG00000254440.3	transcript	ENST00000527246.3	protein_coding	1/1	445/2506	349/408	117/135		chr6	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0014c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0014c0036t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0309 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0042 a0001c0005t0002g0126 a0001c0005t0002g0127 a0001c0005t0002g0236 a0001c0005t0002g0237 a0001c0005t0002g0238 a0001c0005t0002g0285 a0001c0005t0002g0287 a0001c0005t0002g0289 a0001c0005t0002g0290 a0001c0005t0002g0292 a0001c0005t0002g0293 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0302 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0009t0001g0018 a0001c0009t0001g0079 a0001c0009t0001g0111 a0001c0009t0001g0129 a0001c0009t0001g0130 a0001c0009t0001g0132 a0001c0011t0001g0054 a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0069 a0001c0011t0001g0143 a0001c0011t0003g0078 a0001c0012t0001g0019 a0001c0012t0001g0128 a0001c0012t0001g0135 a0001c0012t0001g0136 a0001c0013t0001g0253 a0001c0013t0001g0258 a0001c0013t0001g0260 a0001c0013t0001g0271 a0001c0013t0001g0276 a0001c0015t0002g0284 a0001c0015t0002g0288 a0001c0015t0002g0296 a0001c0015t0002g0299 a0001c0016t0004g0063 a0001c0016t0004g0064 a0001c0016t0004g0066 a0001c0016t0004g0067 a0001c0019t0005g0020 a0001c0019t0005g0120 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0055 a0001c0021t0001g0058 a0001c0021t0001g0092 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0300 a0001c0028t0002g0303 a0001c0029t0001g0032 a0001c0030t0001g0038 a0001c0031t0003g0061 a0001c0031t0003g0062 a0001c0032t0001g0045 a0001c0033t0001g0131 a0001c0033t0001g0134 a0001c0044t0002g0291 a0001c0045t0002g0308 a0001c0046t0001g0137 a0001c0047t0001g0261 a0001c0048t0001g0108 a0001c0049t0001g0100 a0001c0050t0001g0070 a0001c0051t0001g0273 a0001c0052t0001g0248 a0001c0053t0001g0072 a0001c0054t0004g0065 a0001c0055t0001g0140 a0001c0056t0001g0133 a0001c0057t0001g0071 a0001c0058t0001g0110 a0003c0008t0001g0049 a0003c0008t0001g0050 a0003c0008t0001g0339 a0003c0008t0001g0341 a0003c0008t0001g0343 a0003c0008t0001g0344 a0003c0008t0001g0345 a0003c0008t0001g0348 a0003c0010t0001g0047 a0003c0010t0001g0338 a0003c0010t0001g0347 a0003c0010t0001g0349 a0003c0010t0001g0351 a0003c0010t0001g0353 a0003c0035t0001g0048 a0003c0062t0001g0342 a0003c0063t0001g0352 a0003c0064t0001g0354 a0003c0065t0001g0346 a0003c0066t0001g0340 a0003c0067t0001g0350 a0006c0017t0001g0332 a0006c0017t0001g0334 a0006c0017t0001g0335 a0006c0017t0001g0336 a0006c0060t0001g0333 a0014c0036t0002g0286	280	446	0.6278	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037		chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71986319	G G	A A	stop_gained stop_gained	HIGH	HG02027.hp1 HG04184.hp2 NA18986.hp1 others(1): Show HG02027.hp1 HG04184.hp2 NA18986.hp1 NA19056.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0178 a0016c0017t0001g0179 a0016c0017t0001g0180 others(1): Show a0016c0017t0001g0178 a0016c0017t0001g0179 a0016c0017t0001g0180 a0016c0017t0001g0181	4	308	0.0130	0	c.736 others(3): Show c.736C>T	p.Gln others(4): Show p.Gln246*	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	5/30	1160/5623	736/5199	246/1732		chr16	TogoVar
PLEKHA2_chr8_38896346_38978912	38901439	C C	CG CG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.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 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.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 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 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.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 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0006 a0004c0004 a0005c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0003t0001 a0001c0008t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0031 a0003c0006t0001 a0004c0004t0005 a0005c0005t0002 a0006c0009t0008	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(332): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0212 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0267 a0001c0001t0002g0304 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0353 a0001c0001t0002g0362 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0060 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0134 a0001c0001t0003g0141 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0215 a0001c0001t0003g0255 a0001c0001t0003g0265 a0001c0001t0003g0277 a0001c0001t0003g0293 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0349 a0001c0001t0004g0028 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0087 a0001c0001t0004g0105 a0001c0001t0004g0237 a0001c0001t0004g0246 a0001c0001t0004g0257 a0001c0001t0004g0269 a0001c0001t0004g0286 a0001c0001t0004g0295 a0001c0001t0004g0303 a0001c0001t0004g0326 a0001c0001t0004g0331 a0001c0001t0004g0351 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0174 a0001c0001t0005g0192 a0001c0001t0005g0301 a0001c0001t0005g0312 a0001c0001t0005g0350 a0001c0001t0005g0357 a0001c0001t0005g0361 a0001c0001t0006g0023 a0001c0001t0006g0072 a0001c0001t0006g0119 a0001c0001t0006g0268 a0001c0001t0006g0328 a0001c0001t0006g0339 a0001c0001t0006g0344 a0001c0001t0006g0352 a0001c0001t0006g0373 a0001c0001t0008g0006 a0001c0001t0008g0088 a0001c0001t0008g0196 a0001c0001t0008g0288 a0001c0001t0008g0292 a0001c0001t0008g0340 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0071 a0001c0001t0009g0133 a0001c0001t0009g0142 a0001c0001t0009g0145 a0001c0001t0009g0200 a0001c0001t0010g0232 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0279 a0001c0001t0010g0320 a0001c0001t0010g0327 a0001c0001t0012g0139 a0001c0001t0012g0182 a0001c0001t0012g0184 a0001c0001t0012g0195 a0001c0001t0012g0230 a0001c0001t0014g0179 a0001c0001t0014g0248 a0001c0001t0014g0249 a0001c0001t0014g0250 a0001c0001t0015g0216 a0001c0001t0015g0240 a0001c0001t0015g0287 a0001c0001t0015g0334 a0001c0001t0017g0061 a0001c0001t0017g0194 a0001c0001t0018g0095 a0001c0001t0018g0244 a0001c0001t0018g0374 a0001c0001t0019g0124 a0001c0001t0019g0143 a0001c0001t0020g0012 a0001c0001t0020g0126 a0001c0001t0021g0186 a0001c0001t0021g0278 a0001c0001t0022g0222 a0001c0001t0022g0223 a0001c0001t0023g0359 a0001c0001t0023g0360 a0001c0001t0024g0136 a0001c0001t0024g0144 a0001c0001t0025g0013 a0001c0001t0025g0125 a0001c0001t0026g0135 a0001c0001t0026g0137 a0001c0001t0030g0018 a0001c0001t0032g0101 a0001c0001t0033g0207 a0001c0001t0034g0181 a0001c0001t0035g0183 a0001c0001t0036g0305 a0001c0001t0037g0217 a0001c0001t0038g0198 a0001c0001t0039g0274 a0001c0001t0040g0266 a0001c0001t0041g0319 a0001c0001t0042g0242 a0001c0001t0043g0035 a0001c0001t0044g0290 a0001c0001t0045g0302 a0001c0001t0046g0234 a0001c0001t0047g0219 a0001c0001t0048g0317 a0001c0003t0001g0306 a0001c0008t0017g0370 a0002c0002t0001g0231 a0002c0002t0004g0123 a0002c0002t0031g0046 a0003c0006t0001g0050 a0004c0004t0005g0355 a0005c0005t0002g0338 a0006c0009t0008g0211	337	376	0.8963	1	c.-24 others(6): Show c.-24+1dupG		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
PLK4_chr4_127875893_127904224	127891075	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01358.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0008c0011 a0009c0014	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0008c0011t0001 a0009c0014t0001	a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 others(43): Show a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0007g0133 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0005t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0245 a0002c0002t0001g0261 a0008c0011t0001g0002 a0009c0014t0001g0052	79	364	0.2170	1	c.183 others(7): Show c.1831-3dupT		PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	7/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
PLXNA3_chrX_154453281_154482779	154465427	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0094 a0013c0030t0094	a0013c0030t0094g0054 a0013c0030t0094g0054	1	262	0.0038	-1	c.225 others(5): Show c.2250delC	p.Tyr others(5): Show p.Tyr751fs	PLXNA3	ENSG00000130827.6	transcript	ENST00000369682.4	protein_coding	12/33	2425/10885	2250/5616	750/1871	INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNB3_chrX_153759249_153784341	153776066	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01516.hp1 HG03491.hp1 NA18967.hp1 others(1): Show HG01516.hp1 HG03491.hp1 NA18967.hp1 NA18986.hp1	a0006 a0018 a0006 a0018	a0006c0019 a0006c0046 a0018c0036 a0006c0019 a0006c0046 a0018c0036	a0006c0019t0001 a0006c0046t0001 a0018c0036t0001 a0006c0019t0001 a0006c0046t0001 a0018c0036t0001	a0006c0019t0001g0001 a0006c0046t0001g0002 a0018c0036t0001g0118 a0006c0019t0001g0001 a0006c0046t0001g0002 a0018c0036t0001g0118	4	308	0.0130	1	c.458 others(5): Show c.4585dupG	p.Ala others(6): Show p.Ala1529fs	PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	27/36	4707/6153	4586/5730	1529/1909	INFO_REALIGN_3_PRIME	chrX	TogoVar
PMIS2_chr19_35581173_35592296	35586327	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02683.hp2 HG02809.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(3): Show a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0013 a0003c0003t0002g0003	72	444	0.1622	-1	c.69d others(3): Show c.69delT	p.Thr others(4): Show p.Thr24fs	PMIS2	ENSG00000283758.2	transcript	ENST00000640449.2	protein_coding	1/2	156/690	69/453	23/150		chr19	TogoVar
PNMA6F_chrX_153312680_153326767	153319090	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0026 a0007c0015t0026	a0007c0015t0026g0044 a0007c0015t0026g0044	1	331	0.0030	1	c.158 others(5): Show c.1584dupC	p.Ser others(5): Show p.Ser529fs	PNMA6F	ENSG00000225110.3	transcript	ENST00000436629.3	protein_coding	2/2	1883/3294	1584/1737	528/578		chrX	TogoVar
PNMA6F_chrX_153312680_153326767	153319145	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0026 a0007c0015t0026	a0007c0015t0026g0044 a0007c0015t0026g0044	1	331	0.0030	1	c.152 others(5): Show c.1529dupC	p.Gly others(5): Show p.Gly511fs	PNMA6F	ENSG00000225110.3	transcript	ENST00000436629.3	protein_coding	2/2	1828/3294	1529/1737	510/578		chrX	TogoVar
PNMA6F_chrX_153312680_153326767	153319557	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18986.hp1 NA18963.hp2 NA18986.hp1	a0007 a0010 a0007 a0010	a0007c0015 a0010c0012 a0007c0015 a0010c0012	a0007c0015t0026 a0010c0012t0023 a0007c0015t0026 a0010c0012t0023	a0007c0015t0026g0044 a0010c0012t0023g0029 a0007c0015t0026g0044 a0010c0012t0023g0029	2	331	0.0060	1	c.111 others(5): Show c.1117dupG	p.Ala others(5): Show p.Ala373fs	PNMA6F	ENSG00000225110.3	transcript	ENST00000436629.3	protein_coding	2/2	1416/3294	1117/1737	373/578		chrX	TogoVar
PNMA6F_chrX_153312680_153326767	153319590	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0026 a0007c0015t0026	a0007c0015t0026g0044 a0007c0015t0026g0044	1	331	0.0030	-1	c.108 others(5): Show c.1084delG	p.Glu others(5): Show p.Glu362fs	PNMA6F	ENSG00000225110.3	transcript	ENST00000436629.3	protein_coding	2/2	1383/3294	1084/1737	362/578		chrX	TogoVar
PPA2_chr4_105364077_105479062	105474050	T T	C C	start_lost start_lost	HIGH	NA18986.hp1 NA18986.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0011 a0006c0012t0011	a0006c0012t0011g0358 a0006c0012t0011g0358	1	366	0.0027	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/12	13/1665	1/1005	1/334		chr4	TogoVar
PRAMEF33_chr1_13298539_13313907	13307108	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0022 others(2): Show a0001 a0003 a0022 a0023 a0024	a0001c0001 a0001c0003 a0001c0005 others(31): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0027 a0001c0028 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0079 a0003c0004 a0003c0030 a0003c0080 a0003c0081 a0003c0082 a0003c0083 a0022c0084 a0023c0032 a0024c0033	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0001 a0001c0017t0002 a0001c0027t0002 a0001c0028t0001 a0001c0062t0001 a0001c0063t0002 a0001c0064t0001 a0001c0065t0002 a0001c0066t0002 a0001c0067t0010 a0001c0068t0002 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0072t0001 a0001c0073t0001 a0001c0074t0002 a0001c0075t0002 a0001c0076t0001 a0001c0079t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0009 a0003c0030t0001 a0003c0080t0001 a0003c0081t0002 a0003c0082t0002 a0003c0083t0001 a0022c0084t0002 a0023c0032t0001 a0024c0033t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0028 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0057 a0001c0005t0001g0007 a0001c0005t0001g0020 a0001c0005t0002g0004 a0001c0013t0002g0004 a0001c0013t0002g0021 a0001c0014t0001g0010 a0001c0015t0002g0005 a0001c0015t0002g0043 a0001c0017t0001g0010 a0001c0017t0001g0029 a0001c0017t0002g0004 a0001c0027t0002g0005 a0001c0027t0002g0011 a0001c0028t0001g0025 a0001c0062t0001g0007 a0001c0063t0002g0018 a0001c0064t0001g0007 a0001c0065t0002g0004 a0001c0066t0002g0073 a0001c0067t0010g0007 a0001c0068t0002g0005 a0001c0069t0001g0039 a0001c0070t0001g0025 a0001c0071t0002g0070 a0001c0072t0001g0076 a0001c0073t0001g0007 a0001c0074t0002g0005 a0001c0075t0002g0011 a0001c0076t0001g0067 a0001c0079t0002g0058 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0075 a0003c0004t0001g0080 a0003c0004t0001g0086 a0003c0004t0002g0004 a0003c0004t0002g0029 a0003c0004t0002g0032 a0003c0004t0009g0008 a0003c0030t0001g0008 a0003c0030t0001g0081 a0003c0080t0001g0004 a0003c0081t0002g0068 a0003c0082t0002g0074 a0003c0083t0001g0008 a0022c0084t0002g0004 a0023c0032t0001g0055 a0024c0033t0008g0071	245	417	0.5875	0	c.758 others(3): Show c.758G>A	p.Trp others(4): Show p.Trp253*	PRAMEF33	ENSG00000237700.2	transcript	ENST00000437300.2	protein_coding	3/4	831/1518	758/1425	253/474		chr1	TogoVar
PRAMEF4_chr1_12874212_12891201	12881888	A A	AAACAGAG others(314): Show AAACAGAGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA18986.hp2 NA18986.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0004 a0024c0026t0004	a0024c0026t0004g0115 a0024c0026t0004g0115	1	324	0.0031	321	c.840 others(328): Show c.840_841insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCATGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGAACTCTGTT	p.Val others(334): Show p.Val280_Ser281insProPhePhePhePhePhePhePhePheLeuAr gArgSerLeuAlaLeuSerProMetLeuGluCysSerGlyGlyIleSerA laHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAla SerGlnValAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePh eCysIlePheSerArgAspGlyValSerProPheTerProGlyTrpSerA rgSerProAspLeuValIleArgProProArgProProLysValLeuGly LeuGlnAlaTerAlaThrAlaProGlyLeuAsnSerVal	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	3/4	911/1840	840/1437	280/478		chr1	TogoVar
PRICKLE3_chrX_49169802_49191373	49183752	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0129 a0006c0006t0001g0129	1	273	0.0037	-1	c.293 others(4): Show c.293delC	p.Pro others(4): Show p.Pro98fs	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/9	369/2795	293/1848	98/615		chrX	TogoVar
PRPF3_chr1_150316533_150358233	150324880	C C	CTTTT CTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.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 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(297): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0004g0160 a0001c0001t0005g0322 a0001c0001t0006g0158 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0006t0001g0193 a0001c0007t0001g0258 a0002c0005t0001g0149	306	362	0.8453	4	c.-48 others(15): Show c.-48-6_-48-3dupTTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0001 a0000c0002 a0000c0005 others(4): Show a0000c0001 a0000c0002 a0000c0005 a0000c0006 a0000c0007 a0000c0008 a0002c0004	a0000c0001t0002 a0000c0001t0004 a0000c0001t0005 others(6): Show a0000c0001t0002 a0000c0001t0004 a0000c0001t0005 a0000c0002t0001 a0000c0005t0003 a0000c0006t0001 a0000c0007t0002 a0000c0008t0003 a0002c0004t0001	a0000c0001t0002g0001 a0000c0001t0002g0008 a0000c0001t0002g0010 others(100): Show a0000c0001t0002g0001 a0000c0001t0002g0008 a0000c0001t0002g0010 a0000c0001t0002g0014 a0000c0001t0002g0015 a0000c0001t0002g0026 a0000c0001t0002g0027 a0000c0001t0002g0028 a0000c0001t0002g0029 a0000c0001t0002g0030 a0000c0001t0002g0050 a0000c0001t0002g0051 a0000c0001t0002g0052 a0000c0001t0002g0053 a0000c0001t0002g0054 a0000c0001t0002g0055 a0000c0001t0002g0056 a0000c0001t0002g0057 a0000c0001t0002g0058 a0000c0001t0002g0060 a0000c0001t0002g0061 a0000c0001t0002g0063 a0000c0001t0002g0064 a0000c0001t0002g0065 a0000c0001t0002g0066 a0000c0001t0002g0067 a0000c0001t0002g0068 a0000c0001t0002g0069 a0000c0001t0002g0070 a0000c0001t0004g0001 a0000c0001t0004g0062 a0000c0001t0005g0001 a0000c0002t0001g0003 a0000c0002t0001g0006 a0000c0002t0001g0011 a0000c0002t0001g0018 a0000c0002t0001g0023 a0000c0002t0001g0024 a0000c0002t0001g0031 a0000c0002t0001g0032 a0000c0002t0001g0033 a0000c0002t0001g0034 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0042 a0000c0002t0001g0044 a0000c0002t0001g0048 a0000c0002t0001g0049 a0000c0002t0001g0076 a0000c0002t0001g0077 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0001g0096 a0000c0002t0001g0097 a0000c0002t0001g0098 a0000c0002t0001g0099 a0000c0002t0001g0100 a0000c0002t0001g0101 a0000c0002t0001g0102 a0000c0002t0001g0103 a0000c0002t0001g0104 a0000c0002t0001g0105 a0000c0002t0001g0106 a0000c0002t0001g0110 a0000c0002t0001g0111 a0000c0002t0001g0112 a0000c0002t0001g0113 a0000c0002t0001g0129 a0000c0002t0001g0130 a0000c0005t0003g0009 a0000c0005t0003g0022 a0000c0005t0003g0038 a0000c0005t0003g0081 a0000c0005t0003g0082 a0000c0006t0001g0125 a0000c0006t0001g0126 a0000c0007t0002g0059 a0000c0008t0003g0133 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0025 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0124 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0131 a0002c0004t0001g0132	325	428	0.7594	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328		chr4	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 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.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.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 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0005c0017 a0006c0018 a0008c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0007t0002 a0001c0009t0004 a0001c0010t0004 a0001c0011t0001 a0001c0012t0002 a0001c0013t0001 a0001c0014t0001 a0001c0015t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0005c0017t0002 a0006c0018t0001 a0008c0028t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(319): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0018 a0001c0001t0002g0117 a0001c0001t0006g0011 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0009g0048 a0001c0001t0011g0153 a0001c0001t0012g0175 a0001c0001t0013g0250 a0001c0001t0014g0309 a0001c0001t0015g0307 a0001c0001t0016g0352 a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0008g0046 a0001c0002t0010g0064 a0001c0004t0002g0014 a0001c0004t0002g0071 a0001c0004t0002g0074 a0001c0004t0002g0082 a0001c0004t0002g0084 a0001c0004t0002g0086 a0001c0004t0002g0087 a0001c0004t0002g0138 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0114 a0001c0005t0002g0115 a0001c0005t0002g0139 a0001c0005t0004g0339 a0001c0006t0001g0032 a0001c0006t0001g0239 a0001c0006t0001g0290 a0001c0007t0002g0004 a0001c0007t0002g0133 a0001c0009t0004g0045 a0001c0009t0004g0336 a0001c0010t0004g0010 a0001c0011t0001g0345 a0001c0011t0001g0346 a0001c0011t0001g0347 a0001c0012t0002g0057 a0001c0012t0002g0058 a0001c0013t0001g0165 a0001c0013t0001g0166 a0001c0014t0001g0247 a0001c0014t0001g0265 a0001c0015t0004g0343 a0001c0015t0004g0344 a0001c0020t0002g0054 a0001c0021t0002g0140 a0001c0022t0001g0263 a0001c0023t0001g0182 a0001c0024t0001g0271 a0001c0025t0001g0294 a0005c0017t0002g0070 a0006c0018t0001g0212 a0008c0028t0005g0148	376	416	0.9039	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419		chr19	TogoVar
PTTG1IP2_chr7_90464639_90518397	90487326	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp1 NA18955.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0235 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0003c0005t0001g0281	72	384	0.1875	0	c.193 others(5): Show c.193-1G>A		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	2/6					chr7	TogoVar
RBM10_chrX_47140221_47191813	47181590	A A	ATCTAC ATCTAC	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0120	1	226	0.0044	5	c.152 others(14): Show c.1520_1524dupTCTAC	p.Gln others(5): Show p.Gln509fs	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	14/24	1915/3397	1525/2793	509/930	INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF32_chr7_156635774_156682130	156675865	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show HG00438.hp2 HG00609.hp2 HG01168.hp2 HG01256.hp1 HG02027.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG04204.hp2 HG06807.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18975.hp2 NA18981.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0003 a0004c0005 others(1): Show a0002c0002 a0003c0003 a0004c0005 a0005c0006	a0002c0002t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0002c0002t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0004c0005t0002 a0005c0006t0004	a0002c0002t0001g0077 a0003c0003t0002g0053 a0003c0003t0002g0190 others(41): Show a0002c0002t0001g0077 a0003c0003t0002g0053 a0003c0003t0002g0190 a0003c0003t0002g0229 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0004g0010 a0003c0003t0004g0017 a0003c0003t0004g0035 a0003c0003t0004g0050 a0003c0003t0004g0067 a0003c0003t0004g0068 a0003c0003t0004g0069 a0003c0003t0004g0070 a0003c0003t0004g0071 a0003c0003t0004g0072 a0003c0003t0004g0073 a0003c0003t0004g0075 a0003c0003t0004g0076 a0003c0003t0004g0078 a0003c0003t0004g0079 a0003c0003t0004g0080 a0003c0003t0004g0081 a0003c0003t0004g0082 a0003c0003t0004g0083 a0003c0003t0004g0084 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0088 a0003c0003t0004g0089 a0003c0003t0004g0090 a0003c0003t0004g0092 a0003c0003t0004g0098 a0003c0003t0004g0099 a0003c0003t0004g0100 a0003c0003t0004g0145 a0003c0003t0004g0189 a0003c0003t0004g0204 a0003c0003t0004g0230 a0003c0003t0007g0271 a0003c0003t0007g0272 a0004c0005t0002g0270 a0005c0006t0004g0022	55	448	0.1228	0	c.852 others(5): Show c.852+2T>C		RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding	8/8					chr7	TogoVar
SCRN3_chr2_174390730_174434575	174427852	TTCAAATT others(6): Show TTCAAATTTATCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0008 a0000c0002 a0000c0004 a0000c0008	a0000c0002t0002 a0000c0002t0004 a0000c0002t0012 others(2): Show a0000c0002t0002 a0000c0002t0004 a0000c0002t0012 a0000c0004t0002 a0000c0008t0002	a0000c0002t0002g0002 a0000c0002t0002g0009 a0000c0002t0002g0010 others(47): Show a0000c0002t0002g0002 a0000c0002t0002g0009 a0000c0002t0002g0010 a0000c0002t0002g0016 a0000c0002t0002g0017 a0000c0002t0002g0023 a0000c0002t0002g0053 a0000c0002t0002g0054 a0000c0002t0002g0055 a0000c0002t0002g0056 a0000c0002t0002g0059 a0000c0002t0002g0066 a0000c0002t0002g0067 a0000c0002t0002g0068 a0000c0002t0002g0215 a0000c0002t0002g0216 a0000c0002t0002g0217 a0000c0002t0002g0218 a0000c0002t0002g0220 a0000c0002t0002g0221 a0000c0002t0002g0222 a0000c0002t0002g0224 a0000c0002t0002g0225 a0000c0002t0002g0226 a0000c0002t0002g0227 a0000c0002t0002g0228 a0000c0002t0004g0006 a0000c0002t0004g0024 a0000c0002t0004g0060 a0000c0002t0004g0061 a0000c0002t0004g0062 a0000c0002t0004g0063 a0000c0002t0004g0064 a0000c0002t0004g0065 a0000c0002t0004g0069 a0000c0002t0004g0070 a0000c0002t0004g0086 a0000c0002t0012g0010 a0000c0004t0002g0011 a0000c0004t0002g0025 a0000c0004t0002g0071 a0000c0004t0002g0073 a0000c0004t0002g0074 a0000c0004t0002g0075 a0000c0004t0002g0076 a0000c0004t0002g0077 a0000c0004t0002g0078 a0000c0004t0002g0079 a0000c0004t0002g0081 a0000c0008t0002g0146	88	364	0.2418	-13	c.125 others(22): Show c.1251_1263delTTTATCAGTCAAA	p.Asn others(5): Show p.Asn417fs	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	8/8	1348/3052	1251/1275	417/424	INFO_REALIGN_3_PRIME	chr2	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0019 a0020	a0001c0002 a0001c0003 a0001c0010 others(23): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0005c0005 a0005c0029 a0005c0030 a0008c0018 a0019c0031 a0020c0040	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0005c0005t0001 a0005c0029t0001 a0005c0030t0003 a0008c0018t0001 a0019c0031t0001 a0020c0040t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0010t0002g0010 a0001c0012t0002g0028 a0001c0012t0002g0069 a0001c0012t0002g0084 a0001c0014t0003g0024 a0001c0019t0003g0035 a0001c0020t0001g0036 a0001c0032t0001g0064 a0001c0033t0001g0065 a0001c0034t0001g0111 a0001c0035t0001g0068 a0001c0036t0001g0070 a0001c0037t0001g0093 a0001c0038t0001g0108 a0001c0039t0001g0109 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0048t0001g0151 a0003c0052t0002g0170 a0005c0005t0001g0017 a0005c0005t0001g0020 a0005c0005t0001g0026 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0059 a0005c0029t0001g0054 a0005c0030t0003g0055 a0008c0018t0001g0052 a0008c0018t0001g0053 a0019c0031t0001g0060 a0020c0040t0001g0113	229	432	0.5301	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 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 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0002c0025 a0004c0004 a0006c0006 a0007c0007 a0007c0018 a0008c0011 a0008c0023 a0010c0010 a0011c0013 a0012c0014 a0014c0016 a0015c0022	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0002c0025t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0008c0011t0001 a0008c0023t0001 a0010c0010t0001 a0010c0010t0006 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0022t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(263): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0312 a0002c0002t0001g0337 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0008t0001g0262 a0002c0008t0001g0280 a0002c0008t0001g0281 a0002c0008t0001g0282 a0002c0008t0001g0283 a0002c0008t0001g0313 a0002c0008t0001g0314 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0002c0025t0001g0153 a0004c0004t0001g0004 a0004c0004t0001g0095 a0004c0004t0001g0110 a0004c0004t0001g0124 a0004c0004t0001g0140 a0004c0004t0001g0152 a0004c0004t0001g0179 a0004c0004t0001g0227 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0315 a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0008c0011t0001g0131 a0008c0011t0001g0274 a0008c0011t0001g0275 a0008c0011t0001g0276 a0008c0011t0001g0277 a0008c0011t0001g0279 a0008c0023t0001g0278 a0010c0010t0001g0090 a0010c0010t0001g0091 a0010c0010t0001g0092 a0010c0010t0001g0093 a0010c0010t0001g0094 a0010c0010t0006g0362 a0011c0013t0001g0340 a0011c0013t0001g0341 a0011c0013t0001g0342 a0011c0013t0001g0343 a0012c0014t0001g0087 a0012c0014t0001g0088 a0014c0016t0001g0086 a0015c0022t0001g0318	268	366	0.7322	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552		chr11	TogoVar
SLC25A33_chr1_9534465_9590173	9539692	A A	G G	start_lost start_lost	HIGH	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0031 a0005c0010t0031	a0005c0010t0031g0066 a0005c0010t0031g0066	1	362	0.0028	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding	1/7	228/3865	1/966	1/321		chr1	TogoVar
SLC25A47_chr14_100318339_100335421	100326216	T T	A A	stop_gained stop_gained	HIGH	NA18986.hp2 NA18986.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0001 a0007c0011t0001g0001	1	426	0.0024	0	c.132 others(3): Show c.132T>A	p.Tyr others(3): Show p.Tyr44*	SLC25A47	ENSG00000140107.12	transcript	ENST00000361529.5	protein_coding	3/6	208/1779	132/927	44/308		chr14	TogoVar
SLC35G6_chr17_7476446_7488496	7482961	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 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 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.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 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.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 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0009c0012 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0009t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0001 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0009t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0010g0001 a0004c0004t0001g0001 a0006c0006t0001g0001 a0007c0008t0001g0001 a0008c0007t0001g0001 a0009c0012t0001g0001 a0011c0014t0001g0001	317	412	0.7694	0	c.977 others(3): Show c.977G>A	p.Trp others(4): Show p.Trp326*	SLC35G6	ENSG00000259224.3	transcript	ENST00000412468.4	protein_coding	2/2	1048/1583	977/1017	326/338		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35479822	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show HG00597.hp1 HG01106.hp1 HG01891.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp1 HG02486.hp2 HG02622.hp2 HG03041.hp2 HG03139.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18955.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19076.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0005 a0005	a0005c0006 a0005c0019 a0005c0006 a0005c0019	a0005c0006t0005 a0005c0006t0021 a0005c0006t0036 others(9): Show a0005c0006t0005 a0005c0006t0021 a0005c0006t0036 a0005c0006t0037 a0005c0006t0047 a0005c0006t0089 a0005c0006t0090 a0005c0006t0091 a0005c0006t0092 a0005c0006t0144 a0005c0006t0150 a0005c0019t0002	a0005c0006t0005g0060 a0005c0006t0005g0130 a0005c0006t0005g0131 others(31): Show a0005c0006t0005g0060 a0005c0006t0005g0130 a0005c0006t0005g0131 a0005c0006t0005g0133 a0005c0006t0005g0143 a0005c0006t0005g0147 a0005c0006t0005g0187 a0005c0006t0005g0228 a0005c0006t0005g0237 a0005c0006t0005g0247 a0005c0006t0005g0263 a0005c0006t0005g0265 a0005c0006t0005g0291 a0005c0006t0005g0301 a0005c0006t0005g0306 a0005c0006t0005g0307 a0005c0006t0005g0329 a0005c0006t0005g0354 a0005c0006t0005g0356 a0005c0006t0021g0225 a0005c0006t0021g0231 a0005c0006t0021g0257 a0005c0006t0036g0072 a0005c0006t0036g0280 a0005c0006t0037g0194 a0005c0006t0037g0221 a0005c0006t0047g0029 a0005c0006t0089g0355 a0005c0006t0090g0210 a0005c0006t0091g0139 a0005c0006t0092g0275 a0005c0006t0144g0118 a0005c0006t0150g0090 a0005c0019t0002g0119	34	360	0.0944	-1	c.459 others(4): Show c.459delC	p.Leu others(5): Show p.Leu154fs	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	3/5	1170/13219	459/1839	153/612		chr17	TogoVar
SMCO2_chr12_27441736_27507185	27495209	GTTTTCTC others(7014): Show GTTTTCTCTTTAGTGTGTATCTTAACATGTAATATAGAATGTATGTATGT GTTTAGCTGTTTATCACTTGCCCCCAGCCCCTGTAATAGATTGTATTCTT TGTCTATTTTGTTAACACTGTATCCTAGAACCTGTTAGCAGTAATCACCC AATAAATATGCTTTGCATAGATGAACGAGTTGAGTAGAGGAATTTAGTAC AAGGACATCTTCCTACATTAATAATCTAGTGGTTAAAGATTAGCATGTGG GTTTCATTTAGTTTTCTACCGTAGTGCTACCTTACACTGTGAATGTGTAT GTCTGCTTCTATTCAAGATGCACCTGCCAATGATCTGTTCATGGGACCTA TGTGTGATTTCTAATGTGGGCCCCCAAGGTGATCCAGAGGAAAAGCACTC AGCATTATCTATAGTAAGACTTGGAGACATTTAGAATTTTTTTAAGGTAC TTGATTACTCTTTTTTTTCAGGACCTTTGCAAGAATGTGGAACTGCTGAG TGCAAAGCTAAGGATGTATCAAATGGAGGCAGAGGACACTGACTCTCACA GTTCTGAGGAAATAGATACGGAAGAGATGGAGGCCCTGCTTCCTCAGGCC CCAGCATCCTTTTTAGTGCAGAAGTCTCCTCCCCGCAATACAGCATGGTA AGTCAGAGCAAGAGGCCATTCAGGGCTGGATGACTGCCCCAAAATGTATG GATTATGCTGGGATTGATTTTTTTCAAGTGTTGACTAAAATGTTTTGTTT TATTTTCGTTTGTAAATTATCTATGTTCTTTAAAAGTCATTGGAGTTCAT TGGAGTCATGGGATTTTTCTTATTTAGATAAAGATCTATTGCATTCGATA TATATAGATTGCTTTCTTACTGCTTCAGATAAATCTAAAGATTTATCTTT AGATAAATATATCTAAATATAGATAGATATATCTTCATGATCAAAGATAT ATGACCAAAGACCTCTTGTGGGTGGCTATTAATGTTAATTATATTTTTAG TTAGTCTGTTCCTTTTTGCCTGAAAACTCTTCCAAACAACATTAAGTCAA CACTTTAATTTTAAATTTTCTTCCATGATGGCTGCAAATACAGAGAAGCT TCTCTATACATTTCTATAGATATATAAAGATTTGTCTATGTATAGAGAGA TATAGATTTATTTCTATCTACATATCTATAGATGTATCTATAAAATCTAT CTATATCTATCTAAAATCTTAAAAGATGGTATCTATACATGATGAGGCAA CCACCTCCACTCTTATCAGTTATGTTCTTTTCATAAGAAATTTGAAAAGT TTTGTTTGCTGTGCAGGATGCCTTACCCTTGGATGGTATTGGAAACACAC TACCAGCAAATTCTGGCTCTTTGGATCCTGTCCAGGAGATGCCACACCAT CATTTACACCCTGAGAAGTAATTTCCTCTAAGAAAACATTTTTGATTCTT TATCTCCAACCACCAACCCAGGTAGAATCTCAGCTCTGTCTTCAATCAAG TCCTTTGCCCATTTTAAAGAATTGGGTTGTTCTTTTATTTTTTGCTGTTG AGTTGTAAAAGTTTATGTGCACACCTTGCACATAATCCTGTCGGACAGCC CATGGCATGTTATTGAAATTAAATTGTTTCACATCTGTCTTCTCCTAATA CTCCAAGGGATACACAAAAGCATGAATCTTATCTTCGTAATTTGGGGACT TGACGTATACAAGATGCTCATAATGCTCAAACAGATGTGTGCAGGCCACC TCATGTTGACCATCATAGGAGAGAGCATGTGCTGCCTCTTTGAATTTGCA GGATACGAGGTGCTTAGGTTAAACCATGTAGGAGATTGGGGGACCCAGTT TGACATGCATATTCCTCACCTGCAAGATAAATTTCCAGCTTGTCTAACAG TTTCACCTCCTATTGGAAATCTTCAGGCCTTTTGTAAGGAATCTAAGAGG TTTGATACTGAGGAGGAATTTAAGAAATGAGCATATCAGTGTCACATTCT GTTCCAGAGTAAAAATCCAGATATTATAAAAACTTGAAAGTTTATCTGTG ATATCTCCTGCCAATAGTTTAGTAAAATCTATGATGCTCTGGACATCTCT TTAATAGATAAAGAATAATTCTTCTGTCAAGATAGGATGAATGATGTAAA GGAATTTGATGATAGATGATTTGTGCAAGTGGATGATGGCAGAAAGTTTG TGTTGGTCCCAGGATGTTCCATACCATTAACCATGGTAAAATCAGATGGA GGCTGGGTGTGGTAGCTCATGCCTATAATCCAAGCACTTCGGGAGCCTGA GGCAGGTGGATCACTTGAGCCCCAGGAGTTTGAGACCAGCCTGGGCAACA AGGTGAAAACTTGTATCTACAAAAAAAAAAATTCAGTGACACATGCCTGT AGTTTTACCTACTGGGGAGGCTGAGGTGGGACTATCACCTGAGCCCAGGG AAGTCGAGGTTGTGGTGAGCCTGGAGATCGTGTCACTGCACTCCAGTTTG GGTAACAGAGTGAGACCTGGTCTCAAAAAAAAAAAAAAAAAATCAGATGG AGGTTATAACTATGATGCATCTGATCTGGCTGCTCTTAAGCAAAAACTAT TTGAGGAGAAAGAAGATATGGTTATCTCTGGGTGAACAGTGGACAATCTC TGCACTTCCAAAAAATATTTGCTGCTGCTCAAAAGATTGGTTGGTATGAT CCTAAAGTAACTAGAGTCTCCCGTGCTGGATTTGGTGTGTTGCTAGGGGA AGACAAGAAGTTTAATATATGTTCAGATGAAACAGTTCATCTCGTAGACC TGGAATAAGGACTAAAGTGATCCATGGACAAATTGAAGGAAAAAGAAAGA AGCAAGGTCTTAACTGCAGAGGAATTGAGTGCTGCTTAGACATCTGTTGC TTATGGCTGTATCAAATAAACTGAACTTTCCCATAACCGGTTGAGTGACA ACATCTTCTCGTTTGACAAAATGCTAGATGACAGAGGAAATACAGCTGCT TACTTTTTGTGTGGTTTCACTAGAACCAGGTCTATTGCACATCTGGCCAG TATCAATGATCAGATGCTCCAAAAAGCTGCTTGACAGACCAAGATTATTT TGCACCATGAGAAAGAATGGAAACTAGGCCATGGCATTTTATGGCTCCCT GAGATACAACAAAAGATTTTAGATGACTTACTTCTGGTTCTTGTGGTTCT ATATATGAGCTGGCAGCTACTTTCACAGAGTTCTATGATAGCTGCTATTG TGTGGAGAAAGATCGACAAGAGTGGAGAGATATTGAAGGTGAACATGTGG TGTACGCTGCTGCGTGAAGCAGTAGATGCTGTCCTGGCTGAGGAGTTCAA TATCCCGGGAATAAAACCTGTCCAAAGGATGTAATCCTGCTTAGGTTTGA ACACTGTATGTTTTTACCACACTGGTCACTAGCATTGTTTGCTTTTTTTT TAAATAACCATTATATTAACACAAGAACGTTTGTCAACTGTGAAAAAAAA ATAACTCTTACAACTCAACAACAAAAAGATAAACAACCCAGTTTGAAAAA CAGGCAAATGACTTGGATACACATTTCTTCAAAGAAGACACACAAACGGT CAACAAGCACATGAAAAGATGTTCAGCATCATTGGTCATTAAAAAAAACG TAAATCAAACCCACAATGAACCACAGTGGGATACCACTTAACATCCACTA AGATGACTACAGTAAAAAAGACAGACAATAACTAGCATTGGAGAGGATGT GGAGAAATTGGAACCCTCGTATATCACTGGTGGGATTGCGAAATGGTACA ACCACTTTTGAAAACAACTTGGCAGTTTCTAAAACGGTTAAATATAGAAT TACCACATGATTCCACAAGTCTACTCTTGGGTATATACTCAAAAGAATTG AAAATGTCCACACAAAAACCTGTACACAAATGTTCATGGCAGCATTATTC ATAATAGCCAAAAAGTAGAAACAATCCAAATGTCCGTTAACTGATGAATG GAAAAACAAAATGCAGTGTAGCCACACAATGAACTATTATTCAGCTGCAA AAAAGAATGATGTACTGATACATACCACAACATGATCTTAGAAAACATTG TGCTCAGTGAAAGACAGCCAGACACAGAGGGATATCCAAATGATTCCATC TATATGAATGTTCAAAGTAGGAAAATCCATATAGATTCAAAGTAGATTCA TGGTTTCCAGGCACAGAGTGTTGGGGAATAGGGAGATGGTGACTGCTCCA GGGAATGGGGTTTCTTTTTGGGGTGACAAAAATTTCCTGGAATTAGATAG TGGTGATGGTTGTACAGCCTTGTGACTAAACCAAAAGCCTCTGGATTGTA CAATGTATAGAGTGAATTTTATAGTATGTGACTAATAACTCCAAACCAAC CAACCAGACAAATAAGTAAATAGGTGAATGCCTTTCACGTATCGCTTTAT TGTGTTATATCGGAGGATTATAATCAGGCTGAGTTGCTCATCTTTTTCTC ACATGATTACATTCTAATTAAGATTGCCTGAAATTTTGCCCATCTCTTGT TAAAGAACTGGAGATATATTGGTTTAACTACAGCATATTTATACACTAAC ATCTTGAGGAAGTTTGCCTTATGGATTAATTCAATCATTATGAATCGATT TTTGCTGGTTTTAGCTTCACAAGGTGGCCTTTTATTGATAATGTCCCCTA GTCCTTCCATTCCCTTTATGGTCATCCCCTATGTACTGACCATAAATAAT GTGGAGATATTGGAAAAGATCAAAGGTTTTACACGTGGCAAGGTTTGAAA ATTAAATAAATAGTATTCAAAAGTTAAAAGAATATTTTATTATTTACCAA AGATGTCTAAAATGAATAAAATTATTAGTGACACATTTTTTTGGTTCTGT ACAGGTGATATGAGAAAACTTATTTCAATTTAGTTAACTATTTTTTTTTC CCAAAGAAAAATGTCTAGACCTTTTAAAATGAATATCATGCTTAGTAATA GAAAATTTAAATTTTTAAAACTTGTATTGACTTGTAAATAAAAATCAAAT GATTCATTACTGTCAAGAAATAAATATGAATTTAACTGTACCAAGAGTAT TTACCGTAGGACAGAAAAAACTAGATGAGTATACTCTAAATGTAGGGAAA AAATTAAACTAAAAACTAAGACAAAATAAAAAGAATGAATGAATAAATGG AAGAAAGGAAAAAAGATAAAAAATGTGTCTGGTTATATTTGGGTGATGAG ATTATAGTTTCCTCATTTCTCTGTTTTCCAAATTATCTTTGCTTTAGAAA ATTTGTTTTACTTTCCAAAAACTTAATGTTAAAATGTGTTTCTTTGAAAA TGTCATAGTTTAGTATTTCCAAAGATGACTGGTTTTTTAATTTAGGAGGA ACAGTGTTTATTTACTAGATAGTTTTCGTAGTGAGTTGTTTTTCTTTTCA TAAGAAAGAACAAATCTGCCTTTGGTGCTCCTTGAAGGCAGGACACATCT GCTTCCTGTTATCAGCTCTCTAAGCCCCTTCCTAATAGAGTATCTTAAGA ACATTGGCTCTTTAATAAATGTGTGAAGTGAAAGCAATTATGTGTGTAAC TGCCAAGTGATAGCCAGTGGGGATAATGGCGAGAAACTTGGCTCTGGTTT ATAAAACCACTGAGTTAGGTCACAAAATCGATCCATGGCTAGCTTTAACT ATGCTCTAGATTTTCTCTTCTGATGTATTATAGATGGTAATTATCTCAGG TAATTGGATGATCTATGACATTTCTTCTTTGTGTTCTTCTGGATTTTCTG CCCTAATCATATAATACATTTATAACTAGAAAATAATAATGCAAGGACTT AGAATCATATCAATAAAATATGTCATAGGTGCAACCCAGAAGGATGGGTC CTCAAGGATTTAAAAAAGCTTCTATTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGACATGAACCCAAGAGGCAGAGCTTGCAG TGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAACAAACAAAACAAAACAA AAAAAGCTTCTATTATTTTACAAATAAAAGTCTGGTGCCAGGACAAAAAC TAGGGGCAAAGAGCTCTGAATTCCCTTTATCACGTTATACTTTGTGTCCT GGGGAAAATCTAACTGCCTGTGCCTTTGTTTGCTCAAAAAGAGACATCAT ATACATCATGAGTGAGGTAAAGATTGCAATAACCTGCTAGGATGTGAGAA GGACATTTCAAAGGAAAGAACCCCACACTATCCAGGGATTTTATTGTTTC ATGGCTATAGGATCTTGAAATTCCAATGCCAGACCTAGCATGAACATAAA TAAGTGCTCCTCCATTCCAAGCTGCTGCTTTTACAAATGTAAACTGAAGT CAAGAGAAAATTACTTAGTTGAAGTTTTAGAGCTACCTGGGTGGAGGTGC CAGGAGCCTATCAATGTGATTATTTTCAGAATTTGGTTAACACAGATGTT TTCTCTCTTTGTAGGAAACGTGCACTGAGGATTTTCATCATGTTTGATGT CCTCACCGTCACTGGACTTTTATGTTACATACTATTTTTTGGTGCTACAT TTCTCTTTGAAAGGGTGCTTCTGAGAATGCTTGGGTGCCGCACCACATGG GACCTACGGGAGATGAGAGAGCCTTTCTTGAATTTGGAAGTGGAAGCCTT GTTACCCTCCTAAAGATACAGAAGTTACTGTCACCCTACTGACTTTCTCA CCAGTAAACATTGTGGCTGTTCCTGTATTGTGGTGGCTAACTTATTTTTC AAAAAATAACGTACAAGGTTTT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG02015.hp2 HG02055.hp1 HG02258.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18986.hp2 NA19011.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0000 a0000	a0000c0006 a0000c0010 a0000c0017 others(1): Show a0000c0006 a0000c0010 a0000c0017 a0000c0022	a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 others(2): Show a0000c0006t0005 a0000c0006t0006 a0000c0010t0006 a0000c0017t0005 a0000c0022t0006	a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 others(16): Show a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 a0000c0006t0005g0289 a0000c0006t0005g0290 a0000c0006t0005g0291 a0000c0006t0005g0292 a0000c0006t0005g0293 a0000c0006t0005g0294 a0000c0006t0006g0006 a0000c0006t0006g0033 a0000c0010t0006g0238 a0000c0010t0006g0332 a0000c0010t0006g0333 a0000c0010t0006g0334 a0000c0010t0006g0335 a0000c0017t0005g0020 a0000c0017t0005g0024 a0000c0022t0006g0030	21	360	0.0583	-7021	c.658 others(12): Show c.658-470_*109del		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	8/9					chr12	TogoVar
SNW1_chr14_77712599_77766156	77755096	TAGCTGAG others(58): Show TAGCTGAGTAGGTGCAGGTAAAAAGCTATAAGCAAAGATAATAAAAGTCA GAAATTTAAAAAACTC	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0285 a0002c0005t0001g0285	1	366	0.0027	-65	c.15- others(73): Show c.15-41_38delGAGTTTTTTAAATTTCTGACTTTTATTATCTTTGCTT ATAGCTTTTTACCTGCACCTACTCAGCT	p.Ser others(16): Show p.Ser5_Leu13delinsArg	SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding	2/14	67/2129	15/1611	5/536		chr14	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03239.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0059 a0001c0001t0076 a0001c0001t0085 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0122 a0001c0001t0125 a0001c0001t0128 a0001c0001t0131 a0002c0002t0006 a0002c0002t0048	a0001c0001t0001g0136 a0001c0001t0003g0099 a0001c0001t0003g0141 others(65): Show a0001c0001t0001g0136 a0001c0001t0003g0099 a0001c0001t0003g0141 a0001c0001t0004g0184 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0154 a0001c0001t0006g0001 a0001c0001t0006g0188 a0001c0001t0007g0214 a0001c0001t0007g0216 a0001c0001t0007g0233 a0001c0001t0007g0255 a0001c0001t0009g0202 a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0010g0221 a0001c0001t0010g0227 a0001c0001t0010g0229 a0001c0001t0010g0280 a0001c0001t0010g0358 a0001c0001t0011g0264 a0001c0001t0014g0194 a0001c0001t0014g0212 a0001c0001t0021g0143 a0001c0001t0029g0205 a0001c0001t0029g0273 a0001c0001t0030g0198 a0001c0001t0030g0210 a0001c0001t0030g0258 a0001c0001t0033g0213 a0001c0001t0033g0254 a0001c0001t0034g0211 a0001c0001t0034g0225 a0001c0001t0034g0241 a0001c0001t0040g0249 a0001c0001t0040g0252 a0001c0001t0046g0190 a0001c0001t0047g0191 a0001c0001t0047g0193 a0001c0001t0049g0236 a0001c0001t0049g0237 a0001c0001t0050g0207 a0001c0001t0050g0234 a0001c0001t0051g0215 a0001c0001t0051g0272 a0001c0001t0052g0238 a0001c0001t0053g0230 a0001c0001t0059g0251 a0001c0001t0076g0186 a0001c0001t0085g0346 a0001c0001t0098g0187 a0001c0001t0099g0101 a0001c0001t0100g0247 a0001c0001t0102g0341 a0001c0001t0106g0239 a0001c0001t0107g0271 a0001c0001t0108g0201 a0001c0001t0110g0256 a0001c0001t0111g0222 a0001c0001t0122g0231 a0001c0001t0125g0204 a0001c0001t0128g0226 a0001c0001t0131g0242 a0002c0002t0006g0002 a0002c0002t0006g0197 a0002c0002t0006g0250 a0002c0002t0048g0218	70	366	0.1913	2	c.124 others(15): Show c.1240-4_1240-3dupTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
SON_chr21_33538038_33582481	33576378	G G	GA GA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.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 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.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 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	1	c.723 others(5): Show c.7236dupA	p.Ala others(6): Show p.Ala2413fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7292/8393	7237/7281	2413/2426	INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33576390	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.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 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.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 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0002 a0001c0009 others(50): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0045 a0001c0047 a0001c0053 a0002c0003 a0002c0031 a0003c0004 a0003c0049 a0004c0005 a0005c0008 a0005c0015 a0005c0026 a0005c0028 a0005c0035 a0006c0006 a0007c0007 a0008c0013 a0008c0018 a0008c0024 a0009c0017 a0010c0050 a0011c0046 a0012c0044 a0013c0020 a0014c0032 a0015c0033 a0016c0037 a0017c0039 a0018c0040 a0019c0041 a0021c0042 a0022c0029 a0023c0043 a0024c0027 a0025c0048 a0026c0051 a0027c0052 a0028c0054	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0045t0005 a0001c0047t0001 a0001c0053t0001 a0002c0003t0001 a0002c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0049t0002 a0004c0005t0001 a0005c0008t0001 a0005c0015t0001 a0005c0026t0001 a0005c0028t0001 a0005c0035t0001 a0006c0006t0001 a0007c0007t0001 a0008c0013t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001 a0010c0050t0006 a0011c0046t0001 a0012c0044t0001 a0013c0020t0001 a0014c0032t0001 a0015c0033t0001 a0016c0037t0001 a0017c0039t0001 a0018c0040t0001 a0019c0041t0001 a0021c0042t0001 a0022c0029t0001 a0023c0043t0001 a0024c0027t0001 a0025c0048t0001 a0026c0051t0001 a0027c0052t0001 a0028c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(246): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0009t0001g0027 a0001c0009t0001g0212 a0001c0010t0001g0034 a0001c0010t0001g0108 a0001c0011t0001g0005 a0001c0011t0001g0035 a0001c0012t0001g0082 a0001c0012t0001g0097 a0001c0014t0001g0001 a0001c0016t0001g0123 a0001c0016t0001g0124 a0001c0019t0001g0002 a0001c0021t0001g0010 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0034t0001g0027 a0001c0036t0001g0117 a0001c0038t0001g0122 a0001c0045t0005g0153 a0001c0047t0001g0007 a0001c0053t0001g0057 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0017 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0202 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0218 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0031t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0170 a0003c0004t0001g0193 a0003c0004t0001g0195 a0003c0004t0001g0196 a0003c0004t0001g0197 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0002g0194 a0003c0004t0002g0198 a0003c0004t0002g0200 a0003c0004t0002g0211 a0003c0049t0002g0201 a0004c0005t0001g0015 a0004c0005t0001g0038 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0113 a0004c0005t0001g0125 a0005c0008t0001g0030 a0005c0008t0001g0089 a0005c0008t0001g0164 a0005c0008t0001g0168 a0005c0008t0001g0222 a0005c0015t0001g0111 a0005c0015t0001g0157 a0005c0026t0001g0002 a0005c0028t0001g0019 a0005c0035t0001g0011 a0006c0006t0001g0008 a0006c0006t0001g0171 a0006c0006t0001g0181 a0006c0006t0001g0221 a0007c0007t0001g0048 a0007c0007t0001g0064 a0007c0007t0001g0179 a0007c0007t0001g0180 a0008c0013t0001g0056 a0008c0013t0001g0079 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040 a0010c0050t0006g0107 a0011c0046t0001g0190 a0012c0044t0001g0209 a0013c0020t0001g0178 a0014c0032t0001g0009 a0015c0033t0001g0026 a0016c0037t0001g0199 a0017c0039t0001g0053 a0018c0040t0001g0208 a0019c0041t0001g0115 a0021c0042t0001g0167 a0022c0029t0001g0054 a0023c0043t0001g0033 a0024c0027t0001g0005 a0025c0048t0001g0030 a0026c0051t0001g0067 a0027c0052t0001g0069 a0028c0054t0001g0028	363	364	0.9973	-1	c.724 others(5): Show c.7248delA	p.Arg others(6): Show p.Arg2416fs	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	12/12	7303/8393	7248/7281	2416/2426		chr21	TogoVar
SPAG8_chr9_35804795_35817262	35812101	CACCGCG CACCGCG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(11): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG02523.hp2 NA18953.hp1 NA18963.hp2 NA18970.hp2 NA18986.hp1 NA18995.hp2 NA19002.hp1 NA19012.hp1 NA19081.hp1 NA19087.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	14	420	0.0333	-6	c.41_ others(13): Show c.41_44+2delCGCGGT	p.Ser others(4): Show p.Ser14fs	SPAG8	ENSG00000137098.14	transcript	ENST00000396638.7	protein_coding	1/7		41/1458	14/485		chr9	TogoVar
SPATA31A3_chr9_66981304_66997550	66988619	G G	A A	stop_gained stop_gained	HIGH	HG01081.hp1 HG01167.hp1 HG01192.hp1 others(19): Show HG01081.hp1 HG01167.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp1 HG01934.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18986.hp2 NA19043.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0006 a0014 a0018 others(1): Show a0006 a0014 a0018 a0027	a0006c0005 a0006c0056 a0006c0057 others(4): Show a0006c0005 a0006c0056 a0006c0057 a0014c0027 a0014c0058 a0018c0026 a0027c0060	a0006c0005t0001 a0006c0056t0001 a0006c0057t0001 others(4): Show a0006c0005t0001 a0006c0056t0001 a0006c0057t0001 a0014c0027t0001 a0014c0058t0001 a0018c0026t0001 a0027c0060t0001	a0006c0005t0001g0009 a0006c0005t0001g0023 a0006c0005t0001g0036 others(9): Show a0006c0005t0001g0009 a0006c0005t0001g0023 a0006c0005t0001g0036 a0006c0005t0001g0064 a0006c0005t0001g0073 a0006c0005t0001g0150 a0006c0056t0001g0070 a0006c0057t0001g0071 a0014c0027t0001g0035 a0014c0058t0001g0075 a0018c0026t0001g0037 a0027c0060t0001g0111	22	406	0.0542	0	c.187 others(4): Show c.1879C>T	p.Gln others(4): Show p.Gln627*	SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	4/4	1908/4223	1879/4044	627/1347		chr9	TogoVar
SPDYE21_chr7_67271941_67294005	67281505	T T	TGGGTGGC TGGGTGGC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0002 a0009 a0012 others(2): Show a0002 a0009 a0012 a0015 a0016	a0002c0002 a0002c0010 a0009c0011 others(3): Show a0002c0002 a0002c0010 a0009c0011 a0012c0019 a0015c0015 a0016c0014	a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0010t0001 a0002c0010t0020 a0009c0011t0001 a0012c0019t0001 a0015c0015t0001 a0016c0014t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0077 a0002c0002t0017g0087 a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0010t0020g0003 a0009c0011t0001g0001 a0009c0011t0001g0012 a0009c0011t0001g0071 a0012c0019t0001g0001 a0015c0015t0001g0013 a0016c0014t0001g0004	131	460	0.2848	7	c.514 others(14): Show c.514_520dupGTGGCGG	p.Glu others(5): Show p.Glu174fs	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	4/9	1065/3286	521/1209	174/402	INFO_REALIGN_3_PRIME	chr7	TogoVar

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