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
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 others(40): Show a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175	81	366	0.2213	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	175	0.4800	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417		chr9	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0000 a0000	a0000c0002 a0000c0006 a0000c0016 others(5): Show a0000c0002 a0000c0006 a0000c0016 a0000c0027 a0000c0038 a0000c0039 a0000c0040 a0000c0043	a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 others(9): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 a0000c0002t0011 a0000c0006t0001 a0000c0006t0002 a0000c0016t0002 a0000c0027t0002 a0000c0038t0003 a0000c0039t0015 a0000c0040t0002 a0000c0043t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 others(9): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 a0000c0002t0011g0000 a0000c0006t0001g0000 a0000c0006t0002g0000 a0000c0016t0002g0000 a0000c0027t0002g0000 a0000c0038t0003g0000 a0000c0039t0015g0000 a0000c0040t0002g0000 a0000c0043t0001g0000	108	452	0.2389	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125301963	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show HG00544.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG04228.hp2 NA18940.hp1 NA18949.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0038 a0001c0002t0003 a0001c0002t0007 a0001c0002t0038	a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 others(27): Show a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0134 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0151 a0001c0002t0007g0124 a0001c0002t0007g0129 a0001c0002t0007g0133 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0007g0137 a0001c0002t0007g0142 a0001c0002t0007g0143 a0001c0002t0007g0149 a0001c0002t0007g0150 a0001c0002t0038g0141	30	340	0.0882	2	c.186 others(13): Show c.186-4_186-3dupTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27				INFO_REALIGN_3_PRIME	chr9	TogoVar
GBP3_chr1_89001680_89027866	89010225	GATTCTCC others(2709): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCCTGCCA CCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGTT AACTAGTATTTGAAAGACAGGGTCTGGCTCTGTTGCCCAGGCCAGAGTGC TGAGGTGCAATCTTGGCTCACTGAACCTCCCGGGCTCAAGCAATTCTCCT GCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGTGCAACAGTGCCCA GCTAATTTTTATATTCTTACTAGAGACATGTTTCACCATGTTGCTCAGGC TGGTCTTAAACTCCTGAGCTCAAGCAATCTGCCTGCCTCTGCCCTCAAAG TGTTAGGATTACAGGCTTGAGCCACCGCACCCGCCGACTGCACTCTCTTT GATGAGCACCTGGGACATACCTGATATAACAGTCTCCCTCCCTGCATATG TTATTGAATGAAAGCATGAATGTTATACAGACAAAAAAGCACATCTGTGT GCAGTGAAGCTTGGTCACTTTGGTGTTCGTAGGAGGTAGGTCAGCAGGTT TCCATAATCGACAGATGAATCTTGGTTACCTGTATCCCCTTCCTTGGTTC CTCATAGTACTTTTTCTCCAGGTCTTGTAGCTTCTGAATAAAGAGACAAT AGCCCCCTGGTTTCGAATAAATTCCCGCCTTCACTTCTTCTTCTAGAGGA CTGAAAATGACCTGAAGTAAAGCTGAGCAACGATCTGATGATGCTTCTTG ATTCTGTTTACAAAAGTCATCCCGCTTTTTGTCTAGCTGGGCCTTTAATG TAAAAATAGGAAGTAAAAAGAGTAACAGGGAAAGGATGTTAGCTTGACCT CAGAATTTTGGGAAAGACTTCCGAAAATAAACAGTCAATGATGCCGGAGA AACTGACAGACTCCTCAGCAGGACCACGCTCTTACTCCTGACCCCACTTT CTACTGAAATCGCTTTCTCTTTAGAGGTGAGGTTCAGGGCTGAGATTGAC AGCTTTATGTCAACTGTTAGAGGAAAGCTCTGCTTTTGCATATTGGACTA ATGATTTCATATGGAATAAATGTGGCTGAACAGAAGCCTGCTCAAGATAA CTAAGATGAAAATTTTCTTTGCATTTGGCTAGAATATCAAATCAGTCTGA GAAGAGTGGGCATGTAATTTGATTAGAAGCCCTGATTGTCAGTTATATGA ATTTAATAAAGGGAAGACCATTTATTGATAAGCAATGTTTTTAAACTTTG AGTCTGAAGTAATAAAATTGTTTTTGTCTGATTATTATGATTACCAAGAA CTAGTTGTCACCATTTTAAAATCTAGAATAATTATTTGTCTCAAAATAAA TACCAATTTCATTTCTTAGTAGTACTTTGCCTTCCAAAATCCAAATCCAT GTAAATGTGATAGAAAAATTACCGCTAATTTCTTTTGAAACAGATGGTCC ACATCCTTGAAAGAGTTCTTCATATAGACTTCAGTGGCCTCCCTCTCACT AACCCTGTGCAGGTCCAGCAGCTCCTGGAGGGTTTCTGCGGGCAGCTGCA CCTTCTGGCCCATCTGCTGGTCATAGTGGGCAATAGCCTTTTGCACTGCG GCTGAGTTCTCTATCTGGGCCAAGGCCAGGACTGCGTTCTCCATGCAGGG CAGATCCCCTCTGCTGATAGCATTGATATAGGTCAGCACTAGGCTCTCTA GACCTACATACAAAGAAGAAATGATAATGTTTCTTGTACTAAAGAAAACT CTCTATTCTGTGTAATTCTGAACATGTCAATTTCCACCTATTTTCCTCAC AGCATCAAGGTCCTCAGAATCATCTGGAAGCTTGCTGGAAATGCCTATTG TTAGCCTCTGTCCCAGATCTACTGAATTAGAGTTTTTTCTTTGGGTAAGA TCCCTAGATGATATGTATGCATATCAACATTTGAGAATCCTTGTTCTAGA TGACCTAGTCCTGTGTTAGTTGAATGTTTGCATCCATTTCAACCCCAAGC ACCATCAGGAAAGGAACCCATAGCTATTCCATATATGACTGTATCCTCAG CTTATTCACAGTAGCATTTGATCAATACTTATGGAACAAATGATACTCTC CTAATCAAAAGGAGCCCTCCGTTTGGTTTATTTTAGCACAGCATTGTCCA AGAAAACTTTCTGTAATGGTGGAAGTGTTCTGTATGTGCTGTTCAGTATG CTAGCCACTAAGTACATGTAAATATAAGCCTTTGAAATATAGCCATGTGA ATTGACCTTTAATTTTTCCTTATTTTAATTAATTTACATTTACATTTAGA TAGCCCCACTTGTCTAGTGGCTACTGTACTGTACAGTGCAGGCCCAGTTT ACTGTGGCAATTTTAAGTAATAAAACTTTTTTCCTTTGCTTTTCCTATCT TTTCCCACCAAGAAGGTTGACCAACAAAATCTATTAGAAATGTTGGTGTC ATCTAGAATTTAGCACAAATGTAGCAGTAGATTGGGATTTTTCAATGCTG ATACTAGGTGGAGTTATTCTATGCTCCTTTCATATTTTTTTTTTCCTCTG TCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGTCTCACTGCAACCTCTG CCTCCCAGGTTCAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0016 a0018 a0002 a0016 a0018	a0002c0002 a0016c0013 a0018c0020 a0002c0002 a0016c0013 a0018c0020	a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 others(2): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0016c0013t0003 a0018c0020t0003	a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 others(67): Show a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0063 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0006g0014 a0002c0002t0006g0040 a0002c0002t0006g0041 a0002c0002t0006g0167 a0002c0002t0006g0204 a0002c0002t0006g0213 a0002c0002t0006g0216 a0002c0002t0006g0217 a0002c0002t0009g0166 a0002c0002t0009g0206 a0002c0002t0009g0222 a0016c0013t0003g0201 a0018c0020t0003g0205	82	436	0.1881	-2716	c.868 others(16): Show c.868+244_1362+678del		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	8/11					chr1	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 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 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.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 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.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 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 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 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.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 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPR78_chr4_8575392_8595023	8582572	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show HG00621.hp1 HG02080.hp2 HG04115.hp1 HG04199.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp2 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp2 NA19006.hp2 NA19012.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp2 NA19077.hp2 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0004t0009 a0004c0004t0015 a0004c0004t0018 a0004c0004t0019 a0004c0004t0049 a0004c0004t0062 a0004c0004t0071	a0004c0004t0001g0009 a0004c0004t0001g0175 a0004c0004t0002g0001 others(15): Show a0004c0004t0001g0009 a0004c0004t0001g0175 a0004c0004t0002g0001 a0004c0004t0002g0002 a0004c0004t0002g0107 a0004c0004t0003g0006 a0004c0004t0003g0021 a0004c0004t0003g0074 a0004c0004t0003g0140 a0004c0004t0007g0022 a0004c0004t0009g0015 a0004c0004t0009g0131 a0004c0004t0015g0032 a0004c0004t0018g0018 a0004c0004t0019g0006 a0004c0004t0049g0136 a0004c0004t0062g0145 a0004c0004t0071g0103	19	462	0.0411	1	c.712 others(4): Show c.712dupC	p.Arg others(5): Show p.Arg238fs	GPR78	ENSG00000155269.12	transcript	ENST00000382487.5	protein_coding	2/3	1304/4343	713/1092	238/363	INFO_REALIGN_3_PRIME	chr4	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0008c0009t0001	a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 others(106): Show a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0076 a0002c0002t0001g0115 a0002c0002t0001g0232 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0006 a0003c0003t0001g0011 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0082 a0003c0003t0001g0087 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0146 a0003c0003t0001g0327 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0347 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0004c0005t0001g0033 a0004c0005t0001g0233 a0004c0005t0001g0234 a0004c0005t0001g0261 a0004c0005t0001g0263 a0004c0005t0001g0264 a0005c0006t0001g0155 a0006c0007t0001g0062 a0006c0007t0001g0067 a0006c0007t0001g0113 a0007c0008t0001g0270 a0007c0008t0001g0273 a0008c0009t0001g0237 a0008c0009t0001g0238	110	374	0.2941	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3					chr3	TogoVar
HAO2_chr1_119363785_119399130	119386675	GAATGATC others(3): Show GAATGATCTCT	G G	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0258 a0006c0009t0001g0258	1	428	0.0023	-10	c.616 others(17): Show c.616_625delAATGATCTCT	p.Asn others(5): Show p.Asn206fs	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/8	742/1472	616/1056	206/351		chr1	TogoVar
HGS_chr17_81679011_81707121	81695815	GAGCCACG others(3): Show GAGCCACGAGC	G G	frameshift_variant frameshift_variant	HIGH	NA18991.hp1 NA18991.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0077 a0014c0027t0002g0077	1	414	0.0024	-10	c.121 others(19): Show c.1212_1221delCCACGAGCAG	p.His others(5): Show p.His405fs	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	15/22	1268/2893	1212/2334	404/777	INFO_REALIGN_3_PRIME	chr17	TogoVar
HSD17B13_chr4_87298794_87327882	87310240	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0010 a0001c0001 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0353 a0001c0001t0002g0126 a0006c0008t0001g0082 a0006c0008t0001g0085 a0007c0010t0001g0036	96	442	0.2172	1	c.812 others(6): Show c.812+2dupT		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6					chr4	TogoVar
HYAL4_chr7_123840169_123882481	123868274	A A	G G	start_lost start_lost	HIGH	HG00544.hp2 HG01123.hp2 HG01192.hp1 others(28): Show HG00544.hp2 HG01123.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 NA18942.hp2 NA18946.hp2 NA18949.hp2 NA18964.hp1 NA18967.hp1 NA18972.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA19002.hp2 NA19070.hp2 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0013 others(1): Show a0002c0002 a0002c0005 a0002c0013 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0013t0001 a0002c0014t0003	a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(19): Show a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0048 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0233 a0002c0002t0001g0237 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0002g0066 a0002c0002t0002g0238 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0005t0001g0016 a0002c0005t0001g0025 a0002c0005t0001g0235 a0002c0013t0001g0218 a0002c0014t0003g0025	31	394	0.0787	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	3/5	639/2410	1/1446	1/481		chr7	TogoVar
HYAL4_chr7_123840169_123882481	123876924	C C	G G	stop_gained stop_gained	HIGH	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0218 a0002c0013t0001g0218	1	394	0.0025	0	c.121 others(4): Show c.1215C>G	p.Tyr others(4): Show p.Tyr405*	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	5/5	1853/2410	1215/1446	405/481		chr7	TogoVar
HYAL4_chr7_123840169_123882481	123877057	A A	T T	stop_gained stop_gained	HIGH	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0218 a0002c0013t0001g0218	1	394	0.0025	0	c.134 others(4): Show c.1348A>T	p.Lys others(4): Show p.Lys450*	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	5/5	1986/2410	1348/1446	450/481		chr7	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IFNE_chr9_21475839_21487313	21481484	G G	A A	stop_gained stop_gained	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	61	450	0.1356	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	IFNE	ENSG00000184995.7	transcript	ENST00000448696.4	protein_coding	1/1	830/1475	211/627	71/208		chr9	TogoVar
JOSD1_chr22_38680543_38705943	38689118	ACACCGAC others(21): Show ACACCGACATCCCTGCAGGGGAGAAATGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0097 a0003c0004t0002g0097	1	376	0.0027	-28	c.315 others(38): Show c.315-17_325delCCATTTCTCCCCTGCAGGGATGTCGGTG	p.Arg others(5): Show p.Arg105fs	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	4/5	1100/3743	315/609	105/202		chr22	TogoVar
KANK2_chr19_11159270_11202545	11193874	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00735.hp1 HG01358.hp1 others(16): Show HG00597.hp2 HG00735.hp1 HG01358.hp1 HG01978.hp2 HG01993.hp2 HG02083.hp2 HG02135.hp2 HG02738.hp1 NA18954.hp2 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19057.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0011 others(3): Show a0002c0004 a0002c0005 a0002c0011 a0002c0014 a0002c0019 a0002c0020	a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 others(11): Show a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0002c0004t0015 a0002c0005t0002 a0002c0005t0003 a0002c0011t0014 a0002c0011t0041 a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 a0002c0020t0003	a0002c0004t0001g0327 a0002c0004t0004g0201 a0002c0004t0005g0198 others(16): Show a0002c0004t0001g0327 a0002c0004t0004g0201 a0002c0004t0005g0198 a0002c0004t0007g0145 a0002c0004t0007g0199 a0002c0004t0008g0202 a0002c0004t0015g0200 a0002c0005t0002g0072 a0002c0005t0003g0052 a0002c0005t0003g0073 a0002c0005t0003g0074 a0002c0005t0003g0359 a0002c0005t0003g0373 a0002c0011t0014g0348 a0002c0011t0041g0349 a0002c0014t0001g0197 a0002c0014t0007g0196 a0002c0019t0002g0344 a0002c0020t0003g0143	19	394	0.0482	1	c.205 others(4): Show c.205dupC	p.Arg others(4): Show p.Arg69fs	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	4/13	544/5183	205/2556	69/851		chr19	TogoVar
KCNJ16_chr17_70070225_70140608	70100767	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18949.hp2 NA18962.hp1 NA18991.hp2 NA19005.hp1 NA19006.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001 a0002c0002t0004 a0002c0002t0006 a0002c0011t0030 a0005c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0007g0049 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0313 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0306 a0001c0001t0021g0294 a0001c0001t0023g0323 a0001c0001t0024g0319 a0001c0004t0001g0309 a0002c0002t0004g0009 a0002c0002t0004g0051 a0002c0002t0004g0142 a0002c0002t0006g0322 a0002c0011t0030g0290 a0005c0010t0004g0288	50	330	0.1515	0	c.-19 others(6): Show c.-191+1G>A		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3					chr17	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 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 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0007t0001g0070 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0006g0155	251	448	0.5603	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5					chr19	TogoVar
KRBA1_chr7_149709951_149739575	149723729	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0022 a0025 a0026 a0027	a0001c0001 a0001c0009 a0001c0025 others(24): Show a0001c0001 a0001c0009 a0001c0025 a0001c0028 a0002c0004 a0002c0005 a0003c0002 a0003c0018 a0004c0003 a0004c0020 a0006c0008 a0006c0033 a0007c0007 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0014c0016 a0015c0017 a0016c0034 a0017c0032 a0018c0019 a0022c0024 a0025c0030 a0026c0021 a0027c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0001c0009t0004 a0001c0025t0001 a0001c0028t0001 a0002c0004t0001 a0002c0004t0006 a0002c0005t0001 a0002c0005t0007 a0003c0002t0001 a0003c0018t0001 a0004c0003t0001 a0004c0020t0001 a0006c0008t0003 a0006c0033t0003 a0007c0007t0001 a0008c0010t0001 a0009c0011t0001 a0010c0012t0001 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0017t0001 a0016c0034t0001 a0017c0032t0001 a0018c0019t0001 a0022c0024t0001 a0025c0030t0001 a0026c0021t0001 a0027c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0038 a0001c0001t0005g0159 a0001c0001t0008g0004 a0001c0009t0001g0012 a0001c0009t0001g0120 a0001c0009t0004g0038 a0001c0025t0001g0019 a0001c0028t0001g0092 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0004t0001g0047 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0163 a0002c0004t0006g0010 a0002c0005t0001g0040 a0002c0005t0001g0048 a0002c0005t0001g0049 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0129 a0002c0005t0007g0040 a0003c0002t0001g0011 a0003c0002t0001g0015 a0003c0002t0001g0018 a0003c0002t0001g0030 a0003c0002t0001g0042 a0003c0002t0001g0136 a0003c0002t0001g0144 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0018t0001g0011 a0004c0003t0001g0005 a0004c0003t0001g0006 a0004c0003t0001g0125 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0141 a0004c0003t0001g0142 a0004c0003t0001g0151 a0004c0020t0001g0124 a0006c0008t0003g0032 a0006c0008t0003g0046 a0006c0008t0003g0162 a0006c0033t0003g0046 a0007c0007t0001g0020 a0007c0007t0001g0153 a0008c0010t0001g0005 a0009c0011t0001g0013 a0009c0011t0001g0083 a0010c0012t0001g0053 a0010c0012t0001g0080 a0011c0013t0001g0130 a0011c0013t0001g0131 a0011c0013t0001g0132 a0012c0014t0001g0004 a0014c0016t0001g0043 a0015c0017t0001g0164 a0016c0034t0001g0024 a0017c0032t0001g0128 a0018c0019t0001g0137 a0022c0024t0001g0002 a0025c0030t0001g0152 a0026c0021t0001g0002 a0027c0036t0001g0002	282	414	0.6812	1	c.875 others(6): Show c.875-3dupT		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	7/16				INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT24_chr17_40692991_40708752	40701882	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0001c0015 a0010c0012 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0010c0012t0001 a0012c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0013t0001g0082 a0001c0014t0002g0086 a0001c0015t0001g0094 a0010c0012t0001g0156 a0010c0012t0001g0157 a0012c0016t0001g0149	204	424	0.4811	-1	c.666 others(4): Show c.666delT	p.Asn others(5): Show p.Asn222fs	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/8	725/1883	666/1578	222/525		chr17	TogoVar
KRT37_chr17_41415547_41429585	41422807	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0020 a0008c0009 a0002c0002 a0002c0020 a0008c0009	a0002c0002t0002 a0002c0020t0002 a0008c0009t0002 a0002c0002t0002 a0002c0020t0002 a0008c0009t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 a0002c0020t0002g0037 a0008c0009t0002g0015	102	409	0.2494	0	c.703 others(3): Show c.703C>T	p.Gln others(4): Show p.Gln235*	KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding	3/7	765/1743	703/1350	235/449		chr17	TogoVar
KRTAP13-2_chr21_30366390_30377271	30371809	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18997.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0002 a0007 a0008 others(1): Show a0002 a0007 a0008 a0010	a0002c0002 a0007c0007 a0008c0008 others(1): Show a0002c0002 a0007c0007 a0008c0008 a0010c0009	a0002c0002t0001 a0007c0007t0001 a0008c0008t0001 others(1): Show a0002c0002t0001 a0007c0007t0001 a0008c0008t0001 a0010c0009t0001	a0002c0002t0001g0000 a0007c0007t0001g0000 a0008c0008t0001g0000 others(1): Show a0002c0002t0001g0000 a0007c0007t0001g0000 a0008c0008t0001g0000 a0010c0009t0001g0000	121	462	0.2619	0	c.405 others(3): Show c.405T>A	p.Cys others(4): Show p.Cys135*	KRTAP13-2	ENSG00000182816.9	transcript	ENST00000399889.4	protein_coding	1/1	463/882	405/528	135/175		chr21	TogoVar
KRTAP19-6_chr21_30536535_30546864	30541662	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.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 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 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 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.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.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0001 a0000c0003 a0000c0004 others(2): Show a0000c0001 a0000c0003 a0000c0004 a0000c0005 a0000c0006	a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 others(2): Show a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 a0000c0005t0001 a0000c0006t0001	a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 others(2): Show a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 a0000c0005t0001g0000 a0000c0006t0001g0000	304	394	0.7716	-1	c.171 others(4): Show c.171delC	p.Tyr others(4): Show p.Tyr58fs	KRTAP19-6	ENSG00000186925.6	transcript	ENST00000334046.5	protein_coding	1/1	202/330	171/177	57/58		chr21	TogoVar
KRTAP29-1_chr17_41296826_41307851	41302321	TGTACAGA others(6): Show TGTACAGATGGTTG	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show HG00408.hp2 HG00544.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02135.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA21309.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0009 a0004c0006 others(1): Show a0002c0002 a0002c0009 a0004c0006 a0007c0010	a0002c0002t0000 a0002c0009t0000 a0004c0006t0000 others(1): Show a0002c0002t0000 a0002c0009t0000 a0004c0006t0000 a0007c0010t0000	a0002c0002t0000g0000 a0002c0009t0000g0000 a0004c0006t0000g0000 others(1): Show a0002c0002t0000g0000 a0002c0009t0000g0000 a0004c0006t0000g0000 a0007c0010t0000g0000	85	399	0.2130	-13	c.518 others(20): Show c.518_530delCAACCATCTGTAC	p.Pro others(5): Show p.Pro173fs	KRTAP29-1	ENSG00000212658.1	transcript	ENST00000391353.1	protein_coding	1/1	530/1026	518/1026	173/341		chr17	TogoVar
LOC122319696_chrX_149409877_149420506	149415076	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18939.hp1 NA18991.hp1 NA19011.hp1 NA18939.hp1 NA18991.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	3	313	0.0096	-1	c.214 others(4): Show c.214delA	p.Ser others(4): Show p.Ser72fs	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding	2/2	243/443	214/285	72/94		chrX	TogoVar
LRRIQ1_chr12_85031351_85250105	85244867	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02280.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp1 HG03017.hp2 HG03209.hp2 HG03486.hp2 HG03710.hp1 HG03831.hp2 HG06807.hp1 NA18945.hp1 NA18954.hp1 NA18963.hp1 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp1 NA19011.hp2 NA19012.hp1 NA19074.hp1 NA19077.hp1 NA19086.hp1 NA20300.hp1 NA20805.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0016	a0002c0003 a0003c0004 a0004c0008 others(2): Show a0002c0003 a0003c0004 a0004c0008 a0004c0011 a0016c0014	a0002c0003t0001 a0003c0004t0001 a0004c0008t0001 others(2): Show a0002c0003t0001 a0003c0004t0001 a0004c0008t0001 a0004c0011t0001 a0016c0014t0001	a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 others(50): Show a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0003c0004t0001g0168 a0003c0004t0001g0196 a0003c0004t0001g0200 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213 a0003c0004t0001g0214 a0003c0004t0001g0215 a0004c0008t0001g0220 a0004c0008t0001g0221 a0004c0008t0001g0222 a0004c0008t0001g0224 a0004c0011t0001g0107 a0004c0011t0001g0108 a0016c0014t0001g0208	53	228	0.2325	-1	c.510 others(5): Show c.5105delA	p.Asn others(6): Show p.Asn1702fs	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	27/27	5186/5414	5105/5169	1702/1722	INFO_REALIGN_3_PRIME	chr12	TogoVar
MANSC1_chr12_12321056_12355242	12330917	G G	GTCTATGG others(9): Show GTCTATGGACTTTCAAT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18991.hp2 NA18991.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0123 a0005c0011t0123	a0005c0011t0123g0266 a0005c0011t0123g0266	1	322	0.0031	16	c.405 others(23): Show c.405_406insATTGAAAGTCCATAGA	p.Pro others(5): Show p.Pro136fs	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	4/4	670/5532	405/1296	135/431		chr12	TogoVar
MAP1S_chr19_17714480_17739513	17726640	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG00741.hp1 HG01496.hp2 others(8): Show HG00735.hp2 HG00741.hp1 HG01496.hp2 HG02055.hp2 HG02738.hp2 HG03654.hp2 HG03669.hp2 HG04115.hp1 NA18906.hp1 NA18942.hp2 NA18991.hp2	a0005 a0005	a0005c0006 a0005c0009 a0005c0015 others(1): Show a0005c0006 a0005c0009 a0005c0015 a0005c0016	a0005c0006t0001 a0005c0009t0001 a0005c0015t0001 others(1): Show a0005c0006t0001 a0005c0009t0001 a0005c0015t0001 a0005c0016t0001	a0005c0006t0001g0001 a0005c0009t0001g0035 a0005c0009t0001g0036 others(3): Show a0005c0006t0001g0001 a0005c0009t0001g0035 a0005c0009t0001g0036 a0005c0009t0001g0077 a0005c0015t0001g0017 a0005c0016t0001g0020	11	290	0.0379	1	c.126 others(5): Show c.1260dupC	p.Ala others(5): Show p.Ala421fs	MAP1S	ENSG00000130479.11	transcript	ENST00000324096.9	protein_coding	5/7	1284/3288	1261/3180	421/1059	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP7D1_chr1_36151160_36185849	36176495	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01109.hp2 HG01261.hp1 others(9): Show HG00741.hp1 HG01109.hp2 HG01261.hp1 HG01884.hp1 HG01934.hp2 HG02135.hp2 HG02738.hp1 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18991.hp2	a0006 a0013 a0019 a0006 a0013 a0019	a0006c0009 a0006c0019 a0006c0026 others(3): Show a0006c0009 a0006c0019 a0006c0026 a0006c0027 a0013c0023 a0019c0021	a0006c0009t0001 a0006c0009t0002 a0006c0009t0007 others(6): Show a0006c0009t0001 a0006c0009t0002 a0006c0009t0007 a0006c0019t0001 a0006c0019t0003 a0006c0026t0001 a0006c0027t0001 a0013c0023t0002 a0019c0021t0002	a0006c0009t0001g0116 a0006c0009t0001g0143 a0006c0009t0002g0019 others(9): Show a0006c0009t0001g0116 a0006c0009t0001g0143 a0006c0009t0002g0019 a0006c0009t0002g0041 a0006c0009t0002g0237 a0006c0009t0007g0041 a0006c0019t0001g0091 a0006c0019t0003g0155 a0006c0026t0001g0207 a0006c0027t0001g0010 a0013c0023t0002g0224 a0019c0021t0002g0001	12	378	0.0318	1	c.115 others(5): Show c.1152dupC	p.Ala others(5): Show p.Ala385fs	MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	7/17	1411/3372	1153/2523	385/840	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPK11_chr22_50258713_50275380	50266978	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01256.hp1 HG02293.hp2 others(6): Show HG01175.hp2 HG01256.hp1 HG02293.hp2 HG03516.hp2 NA18991.hp2 NA18993.hp2 NA19003.hp1 NA19010.hp1 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(2): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0005t0001	a0002c0004t0001g0096 a0002c0004t0001g0128 a0002c0004t0002g0068 others(6): Show a0002c0004t0001g0096 a0002c0004t0001g0128 a0002c0004t0002g0068 a0002c0004t0002g0082 a0002c0004t0003g0070 a0002c0004t0006g0122 a0002c0005t0001g0112 a0002c0005t0001g0129 a0002c0005t0001g0136	9	428	0.0210	1	c.565 others(4): Show c.565dupC	p.Arg others(5): Show p.Arg189fs	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	7/12	653/2418	565/1095	189/364		chr22	TogoVar
MAPK8IP2_chr22_50595793_50618978	50605666	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18953.hp1 NA18966.hp2 NA18978.hp2 others(6): Show NA18953.hp1 NA18966.hp2 NA18978.hp2 NA18991.hp2 NA18992.hp1 NA19010.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1	a0003 a0003	a0003c0008 a0003c0017 a0003c0023 a0003c0008 a0003c0017 a0003c0023	a0003c0008t0001 a0003c0008t0003 a0003c0017t0004 others(2): Show a0003c0008t0001 a0003c0008t0003 a0003c0017t0004 a0003c0017t0006 a0003c0023t0005	a0003c0008t0001g0001 a0003c0008t0001g0004 a0003c0008t0001g0024 others(5): Show a0003c0008t0001g0001 a0003c0008t0001g0004 a0003c0008t0001g0024 a0003c0008t0003g0003 a0003c0008t0003g0119 a0003c0017t0004g0063 a0003c0017t0006g0006 a0003c0023t0005g0027	9	436	0.0206	1	c.195 others(5): Show c.1951dupG	p.Glu others(5): Show p.Glu651fs	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	7/12	1978/5700	1952/2475	651/824	INFO_REALIGN_3_PRIME	chr22	TogoVar
METTL9_chr16_21594577_21662471	21612623	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show HG00544.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG03453.hp2 HG03831.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18951.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19054.hp1 NA19064.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 others(25): Show a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0007g0220 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0004t0001g0168 a0001c0004t0001g0169	35	364	0.0962	1	c.166 others(6): Show c.166-3dupT		METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr16	TogoVar
MICA_chr6_31398595_31420315	31412383	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0000 a0000	a0000c0005 a0000c0006 a0000c0010 others(5): Show a0000c0005 a0000c0006 a0000c0010 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0028	a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 others(5): Show a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 a0000c0020t0001 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0028t0001	a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 others(28): Show a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 a0000c0005t0001g0028 a0000c0005t0001g0037 a0000c0005t0001g0050 a0000c0005t0001g0097 a0000c0005t0001g0098 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0103 a0000c0005t0001g0104 a0000c0006t0001g0002 a0000c0006t0001g0031 a0000c0006t0001g0032 a0000c0006t0001g0075 a0000c0006t0001g0076 a0000c0006t0001g0077 a0000c0010t0001g0025 a0000c0010t0001g0027 a0000c0010t0001g0049 a0000c0010t0001g0052 a0000c0010t0001g0071 a0000c0010t0001g0096 a0000c0010t0001g0102 a0000c0020t0001g0060 a0000c0021t0001g0027 a0000c0023t0001g0005 a0000c0024t0001g0018 a0000c0028t0001g0002	103	439	0.2346	-1	c.953 others(4): Show c.953delG	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332	INFO_REALIGN_3_PRIME	chr6	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0014 others(2): Show a0000c0002 a0000c0004 a0000c0014 a0000c0017 a0000c0027	a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 others(4): Show a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 a0000c0004t0007 a0000c0014t0001 a0000c0017t0008 a0000c0027t0008	a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 others(34): Show a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 a0000c0002t0001g0022 a0000c0002t0001g0040 a0000c0002t0001g0063 a0000c0002t0001g0064 a0000c0002t0001g0065 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0006g0001 a0000c0004t0001g0003 a0000c0004t0001g0033 a0000c0004t0001g0034 a0000c0004t0001g0045 a0000c0004t0001g0046 a0000c0004t0001g0047 a0000c0004t0001g0048 a0000c0004t0001g0082 a0000c0004t0001g0083 a0000c0004t0001g0084 a0000c0004t0001g0085 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0007g0003 a0000c0004t0007g0033 a0000c0004t0007g0034 a0000c0004t0007g0086 a0000c0004t0007g0105 a0000c0014t0001g0023 a0000c0014t0001g0066 a0000c0017t0008g0059 a0000c0017t0008g0113 a0000c0027t0008g0116	113	439	0.2574	2	c.952 others(9): Show c.952_953insCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MRPS23_chr17_57829781_57855044	57850008	C C	A A	start_lost start_lost	HIGH	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0260 a0003c0005t0002g0260	1	396	0.0025	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	MRPS23	ENSG00000181610.13	transcript	ENST00000313608.13	protein_coding	1/5	37/5609	3/573	1/190		chr17	TogoVar
MS4A12_chr11_60487778_60512430	60497529	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001 a0002c0007t0002	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0105 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0062 a0002c0004t0001g0075 a0002c0004t0001g0121 a0002c0005t0002g0031 a0002c0006t0001g0004 a0002c0007t0002g0009	181	432	0.4190	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	2/7	268/1167	211/804	71/267		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60397879	ATT ATT	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0003t0001g0028 a0001c0003t0001g0038 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0005t0001g0010 a0001c0005t0001g0019 a0001c0005t0001g0034 a0001c0005t0001g0076 a0001c0008t0001g0005 a0001c0009t0001g0032 a0001c0009t0001g0090 a0001c0012t0001g0003 a0001c0013t0001g0055	252	428	0.5888	-2	c.167 others(9): Show c.167_168delTT	p.Ile others(4): Show p.Ile56fs	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding	2/5	287/2908	167/2040	56/679		chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60201743	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG02055.hp1 HG03927.hp2 others(4): Show HG00738.hp1 HG02055.hp1 HG03927.hp2 NA18940.hp1 NA18991.hp1 NA18997.hp2 NA19030.hp1	a0007 a0008 a0011 others(1): Show a0007 a0008 a0011 a0015	a0007c0009 a0008c0016 a0008c0017 others(2): Show a0007c0009 a0008c0016 a0008c0017 a0011c0014 a0015c0019	a0007c0009t0003 a0008c0016t0002 a0008c0017t0012 others(2): Show a0007c0009t0003 a0008c0016t0002 a0008c0017t0012 a0011c0014t0001 a0015c0019t0006	a0007c0009t0003g0210 a0007c0009t0003g0234 a0007c0009t0003g0241 others(4): Show a0007c0009t0003g0210 a0007c0009t0003g0234 a0007c0009t0003g0241 a0008c0016t0002g0151 a0008c0017t0012g0161 a0011c0014t0001g0085 a0015c0019t0006g0255	7	410	0.0171	1	c.795 others(4): Show c.795dupC	p.Val others(5): Show p.Val266fs	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	9/9	991/2465	795/996	265/331		chr11	TogoVar
MTMR1_chrX_150688396_150770108	150762596	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0016 a0000c0008t0016	a0000c0008t0016g0112 a0000c0008t0016g0112	1	270	0.0037	1	c.189 others(5): Show c.1891dupG	p.Ala others(5): Show p.Ala631fs	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	16/16	2027/4536	1892/2022	631/673	INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR1_chrX_150688396_150770108	150762625	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0016 a0000c0008t0016	a0000c0008t0016g0112 a0000c0008t0016g0112	1	270	0.0037	1	c.191 others(5): Show c.1919dupT	p.Glu others(5): Show p.Glu641fs	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	16/16	2055/4536	1920/2022	640/673	INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC7_chr4_70467197_70487997	70474006	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18954.hp2 NA18973.hp1 NA18974.hp2 NA18982.hp1 NA18991.hp1 NA18998.hp2 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0012 a0002c0002 a0008c0012	a0002c0002t0004 a0002c0002t0008 a0008c0012t0004 a0002c0002t0004 a0002c0002t0008 a0008c0012t0004	a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0066 a0002c0002t0008g0012 a0002c0002t0008g0050 a0008c0012t0004g0014	72	436	0.1651	0	c.-15 others(5): Show c.-15-1G>A		MUC7	ENSG00000171195.11	transcript	ENST00000304887.6	protein_coding	1/2					chr4	TogoVar
MYPOP_chr19_45885023_45907613	45891133	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG01099.hp2 HG01175.hp1 others(18): Show HG00438.hp2 HG01099.hp2 HG01175.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG02809.hp1 HG03098.hp1 HG03927.hp1 HG03927.hp2 NA18969.hp1 NA18979.hp1 NA18991.hp2 NA19009.hp2 NA19068.hp2 NA19078.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0002c0009 a0002c0013 others(3): Show a0002c0005 a0002c0009 a0002c0013 a0002c0014 a0002c0023 a0005c0017	a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 others(4): Show a0002c0005t0001 a0002c0005t0007 a0002c0009t0001 a0002c0013t0001 a0002c0014t0001 a0002c0023t0001 a0005c0017t0001	a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 others(17): Show a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 a0002c0005t0001g0076 a0002c0005t0001g0116 a0002c0005t0001g0143 a0002c0005t0001g0171 a0002c0005t0001g0177 a0002c0005t0001g0184 a0002c0005t0007g0161 a0002c0009t0001g0097 a0002c0009t0001g0099 a0002c0009t0001g0104 a0002c0009t0001g0159 a0002c0013t0001g0059 a0002c0013t0001g0061 a0002c0014t0001g0130 a0002c0014t0001g0134 a0002c0023t0001g0094 a0005c0017t0001g0062	21	408	0.0515	1	c.689 others(4): Show c.689dupC	p.Pro others(5): Show p.Pro231fs	MYPOP	ENSG00000176182.6	transcript	ENST00000322217.6	protein_coding	3/3	785/1896	689/1200	230/399		chr19	TogoVar
NANOS1_chr10_119024714_119038730	119029847	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG01081.hp2 HG01099.hp1 others(25): Show HG00621.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18980.hp2 NA18987.hp2 NA18991.hp2 NA19006.hp2 NA19055.hp2 NA19060.hp1 NA19072.hp1	a0000 a0000	a0000c0002 a0000c0007 a0000c0002 a0000c0007	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 others(3): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0016 a0000c0002t0021 a0000c0007t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 others(3): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 a0000c0002t0016g0000 a0000c0002t0021g0000 a0000c0007t0001g0000	28	404	0.0693	1	c.53d others(3): Show c.53dupC	p.Pro others(4): Show p.Pro19fs	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	142/4017	54/879	18/292	INFO_REALIGN_3_PRIME	chr10	TogoVar
NBPF9_chr1_149047186_149108551	149058873	CCTATCTG others(3161): Show CCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCATAGTAAGGTACTC ACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTCCAATGAGTAAA CAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAAGATAACCTGAA GGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTTT CTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGAAAAAGTAAAGA ATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCATGGC TAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCCATTAATGAGGT AATGAATTATTGCCTTTAGGTTGGGATAGACCAGGGCCAGGTAGAAAAGA ATGAAAGAGAAAGACAGGGAGAGACAGAGACAGAGACAGAGAGAAAGTGA CCTAGTGAATTGGCCGGGTGACACACTGATGAAGGAGTAAAAGGACACTC TGAGTTCGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGAGTG AGCTCAATAGTTTTCCATAAAATATGCTCAAAATTCGATGCAGTGGCCAT GAAAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAATGA TAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACCAA CAGCAATGACAGTAGGAGTAATTCAGCCTTCGTTGAAAACGTGACATCAA ACACACTCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGTTAACACAGAAC TAAGGATCCAGAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTGATT TTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTTCTTCTTTGATCTTCTTC CCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAATTCA GACATGGACAGACACATTAAGCTGATTCCCCTACACATATAACAATCCAC TGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAGGAC ACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTTATGATAGAAAT TCCTCAGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTAGTA GATCGTTATCCCAATATCATTGGTCCCAAATTTGTGCAAACAGTTATGCC ATATTTTTCCAATCAATTTAAAGCAAATACCCTCAAATGATTTCTAGGAG AAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTCATG GTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTACAA ACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCAGGT CCAATGTCATGAGGATAGGATCAGGGCGCCACAGGTATGGCCTGAGACTA GGAAGAGAGTCTTGCCCACTGACCCATCCCTCATCTGGGCTTCCAGGTAG AACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTGGCA ATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGATCTT TATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTCAC CTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAAAG GAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGG AGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTA CCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAAT AAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGGTA GCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGGTA ACAAATTATTGCCTTCATGTTGGGACACAACGGGGCCAAATGGAAAAGAA TGAAAGAGAAAGACAGATAGACACACACACACACACACACACACACACAC ACAAACACACACACACAGAGAACGAGCTCAGTGAATTGTCCAGATGACAC ACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACAC AGCATACAGGGATCATGAAAAGACTGAGCTCAATAATTTTCCATAAAATG TGCTCAAATTTCCATGCAGTCGCCATGAGAATAGAGTTTTTGAAGTCTGG TCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAACC TAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTC AGGCTTGCTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTCC CTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTG CTCAGTTACCTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCTTCTTGGTC CTTTTTAATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAA TTCACCTACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTC AGGCTCCTCAGCATGAGCACAGGACAATGTGACAGATATACTTCAGGAAG CCTGAAAGCTGGTCATGATATTCTTTGGTTTGCATCTCAGAACCAAGGGT GAAATATCCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAAG TTTGTGCAAACAGTTATGCCTTATTGTTCCCATCAGTTCAAAGAAAATGC CCCAGATGATTTCTAGGAGGAAAACTGCAGTATTCAGCCCTGTCTCATCA AATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAA TGAAGGAGGAAATCTACAAACCCTTGAGTCCAAATCATACTTCTGTGAAT TTTTTACATCTGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCA CAGGCATGGCTGGAGACTAGGAATGGAGCCTTGCTCACTGACCCATTTCA TGTCTAGGCTTCCAGCTGAGACTACAGTTTCATTACAACCTATATGCGCC CATAGGTCCTGCCTGTGGCAATGACATCTCTCAGGTCAGTAAGGGCCACT TGGAACAGGAATATCACCT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00423.hp2 HG00558.hp1 others(95): Show HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18953.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18983.hp1 NA18991.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19083.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0005 others(11): Show a0003 a0004 a0005 a0011 a0012 a0013 a0016 a0021 a0031 a0035 a0037 a0038 a0039 a0041	a0003c0003 a0004c0004 a0004c0008 others(14): Show a0003c0003 a0004c0004 a0004c0008 a0004c0037 a0005c0005 a0011c0015 a0012c0021 a0012c0036 a0013c0016 a0016c0020 a0021c0047 a0031c0031 a0035c0033 a0037c0028 a0038c0026 a0039c0027 a0041c0024	a0003c0003t0002 a0003c0003t0020 a0003c0003t0039 others(39): Show a0003c0003t0002 a0003c0003t0020 a0003c0003t0039 a0003c0003t0040 a0003c0003t0077 a0003c0003t0078 a0003c0003t0081 a0003c0003t0088 a0003c0003t0089 a0003c0003t0095 a0004c0004t0002 a0004c0004t0007 a0004c0004t0021 a0004c0004t0037 a0004c0004t0091 a0004c0004t0093 a0004c0008t0013 a0004c0008t0014 a0004c0008t0036 a0004c0008t0082 a0004c0037t0007 a0005c0005t0002 a0005c0005t0038 a0005c0005t0041 a0005c0005t0080 a0005c0005t0083 a0005c0005t0084 a0005c0005t0086 a0005c0005t0090 a0011c0015t0012 a0012c0021t0002 a0012c0021t0087 a0012c0036t0092 a0013c0016t0014 a0016c0020t0002 a0021c0047t0079 a0031c0031t0065 a0035c0033t0013 a0037c0028t0002 a0038c0026t0002 a0039c0027t0085 a0041c0024t0002	a0003c0003t0002g0012 a0003c0003t0002g0243 a0003c0003t0002g0244 others(91): Show a0003c0003t0002g0012 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0262 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0303 a0003c0003t0002g0315 a0003c0003t0020g0297 a0003c0003t0020g0299 a0003c0003t0020g0302 a0003c0003t0039g0300 a0003c0003t0039g0304 a0003c0003t0040g0016 a0003c0003t0077g0296 a0003c0003t0078g0250 a0003c0003t0081g0261 a0003c0003t0088g0293 a0003c0003t0089g0301 a0003c0003t0095g0325 a0004c0004t0002g0014 a0004c0004t0002g0242 a0004c0004t0002g0268 a0004c0004t0002g0269 a0004c0004t0002g0279 a0004c0004t0002g0281 a0004c0004t0002g0282 a0004c0004t0002g0285 a0004c0004t0007g0131 a0004c0004t0007g0132 a0004c0004t0007g0133 a0004c0004t0007g0134 a0004c0004t0007g0135 a0004c0004t0021g0317 a0004c0004t0021g0319 a0004c0004t0021g0320 a0004c0004t0037g0290 a0004c0004t0037g0291 a0004c0004t0091g0316 a0004c0004t0093g0321 a0004c0008t0013g0263 a0004c0008t0013g0309 a0004c0008t0013g0310 a0004c0008t0014g0312 a0004c0008t0036g0306 a0004c0008t0036g0307 a0004c0008t0082g0305 a0004c0037t0007g0136 a0005c0005t0002g0241 a0005c0005t0002g0267 a0005c0005t0002g0272 a0005c0005t0002g0274 a0005c0005t0002g0277 a0005c0005t0002g0280 a0005c0005t0002g0287 a0005c0005t0002g0292 a0005c0005t0038g0266 a0005c0005t0038g0271 a0005c0005t0041g0019 a0005c0005t0080g0270 a0005c0005t0083g0284 a0005c0005t0084g0265 a0005c0005t0086g0273 a0005c0005t0090g0283 a0011c0015t0012g0013 a0011c0015t0012g0276 a0012c0021t0002g0289 a0012c0021t0087g0288 a0012c0036t0092g0318 a0013c0016t0014g0015 a0013c0016t0014g0308 a0016c0020t0002g0322 a0016c0020t0002g0323 a0021c0047t0079g0264 a0031c0031t0065g0198 a0035c0033t0013g0311 a0037c0028t0002g0298 a0038c0026t0002g0314 a0039c0027t0085g0313 a0041c0024t0002g0257	98	344	0.2849	-3168	c.225 others(15): Show c.2251+52_2758+51del		NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	26/30					chr1	TogoVar
NDUFS3_chr11_47574074_47589562	47580556	C C	CTGACAGA others(4): Show CTGACAGACACG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0057 a0004c0005t0001g0057	1	422	0.0024	11	c.165 others(18): Show c.165_166insTGACAGACACG	p.Lys others(4): Show p.Lys56fs	NDUFS3	ENSG00000213619.11	transcript	ENST00000263774.9	protein_coding	3/7	184/894	166/795	56/264		chr11	TogoVar
NEK3_chr13_52127647_52164597	52143988	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	398	0.0025	0	c.805 others(5): Show c.805-1G>C		NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding	9/15					chr13	TogoVar
NOS3_chr7_150986017_151019588	150993751	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	382	0.0026	0	c.-51 others(5): Show c.-51-2A>G		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	1/26					chr7	TogoVar

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Search Results (Total: 210 hits)