Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	2	298	0.0067	30	c.126 others(49): Show c.1268+2746_1268+2747insTATATATATATATATATATACACACA CACA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 NA19043.hp1 HG01952.hp2 HG02280.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0025 a0001c0002t0001 a0001c0001t0008 a0001c0001t0025 a0001c0002t0001	a0001c0001t0008g0023 a0001c0001t0025g0021 a0001c0002t0001g0052 a0001c0001t0008g0023 a0001c0001t0025g0021 a0001c0002t0001g0052	3	128	0.0234	30	c.317 others(51): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	128	0.0078	30	c.332 others(51): Show c.3322+15973_3322+16002dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	128	0.0078	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTCTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0128 a0001c0003t0047g0128	1	128	0.0078	30	c.332 others(51): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0117 a0001c0001t0036g0117	1	128	0.0078	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATAGAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	30	c.379 others(51): Show c.3795+71741_3795+71742insTATATATATAGAGAGAGAGAGAGA GAGAGA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02015.hp1 HG02132.hp2 others(8): Show HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02300.hp1 HG02523.hp1 HG03453.hp1 HG06807.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0046 a0001c0010t0006	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0006g0100 a0001c0001t0046g0099 a0001c0010t0006g0087	11	128	0.0859	30	c.379 others(51): Show c.3795+83343_3795+83372dupATTTTATTTTATTTTATTTTATTT TATTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0073 a0002c0008t0011g0073	1	128	0.0078	30	c.401 others(51): Show c.4018+23479_4018+23480insATATATATATATATATATATATAT ATATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0159 a0002c0004t0004g0160	2	220	0.0091	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATATTTTT TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(23): Show ATATATATATATATATATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0001 a0017c0032t0001	a0017c0032t0001g0195 a0017c0032t0001g0195	1	220	0.0046	30	c.411 others(49): Show c.411-23145_411-23144insATATATATATATATATATATTATATA TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19043.hp2 HG01358.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0048 a0001c0001t0015g0005 a0001c0001t0001g0048 a0001c0001t0015g0005	2	220	0.0091	30	c.346 others(47): Show c.3469+645_3469+646insTATATATATATATATATATATATATAAA TA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19004.hp1 NA18966.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0125 a0001c0001t0002g0089 a0001c0001t0002g0125	2	218	0.0092	30	c.455 others(47): Show c.4557+867_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(23): Show CTATAAATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03453.hp2 HG03540.hp1 others(9): Show HG02615.hp1 HG03453.hp2 HG03540.hp1 NA18948.hp1 NA18970.hp1 NA18973.hp1 NA19003.hp1 NA19007.hp1 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0002c0002t0001	a0001c0001t0002g0142 a0001c0001t0002g0189 a0001c0001t0003g0138 others(9): Show a0001c0001t0002g0142 a0001c0001t0002g0189 a0001c0001t0003g0138 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0006g0179 a0001c0001t0018g0193 a0001c0001t0020g0180 a0001c0001t0021g0078 a0001c0003t0001g0080 a0002c0002t0001g0038	12	218	0.0551	30	c.-49 others(41): Show c.-4990_-4989insTATATATATATATATATATATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATXN10_chr22_45666834_45850307	45706698	G G	GTTTATTT others(23): Show GTTTATTTTCTAAATGTCCTTTTGTTACGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(307): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0045 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0248 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181 a0001c0001t0003g0308 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0140 a0001c0001t0004g0225 a0001c0001t0004g0244 a0001c0001t0005g0070 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0009g0133 a0001c0001t0010g0103 a0001c0001t0011g0135 a0001c0001t0012g0080 a0001c0001t0013g0018 a0001c0001t0014g0076 a0001c0001t0015g0239 a0001c0001t0016g0301 a0001c0001t0017g0246 a0002c0003t0001g0184 a0003c0002t0001g0063	310	316	0.9810	30	c.647 others(47): Show c.647+3854_647+3855insATTTTCTAAATGTCCTTTTGTTACGGTT TT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45706698	G G	GTTTATTT others(23): Show GTTTATTTTCTAAATGTCCTTTTGTTATGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp2 others(2): Show HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 others(2): Show a0001c0001t0001g0068 a0001c0001t0006g0086 a0001c0001t0006g0117 a0001c0001t0006g0119 a0001c0001t0018g0118	5	316	0.0158	30	c.647 others(47): Show c.647+3854_647+3855insATTTTCTAAATGTCCTTTTGTTATGGTT TT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(23): Show ATTCTATTCTATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18988.hp1 NA19057.hp1 HG00140.hp2 NA18988.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0001t0002g0105	3	316	0.0095	30	c.117 others(51): Show c.1174-11535_1174-11534insATTCTATTCTATTCTATTGTTTTC TATTCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0018 a0032c0045t0018	a0032c0045t0018g0059 a0032c0045t0018g0059	1	182	0.0055	30	c.-16 others(51): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAACGAAAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(11): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG02056.hp2 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp1 HG03492.hp2 NA18951.hp2 NA18957.hp1 NA18993.hp1 NA19009.hp1	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0010 a0017 a0020 a0023	a0002c0002 a0002c0004 a0003c0003 others(6): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0006c0043 a0010c0010 a0017c0040 a0020c0020 a0023c0035	a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 others(7): Show a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0003c0003t0037 a0004c0005t0002 a0006c0043t0010 a0010c0010t0006 a0017c0040t0007 a0020c0020t0032 a0023c0035t0001	a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0008g0140 others(11): Show a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0008g0140 a0002c0004t0001g0080 a0002c0004t0001g0174 a0003c0003t0037g0150 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0160 a0006c0043t0010g0128 a0010c0010t0006g0008 a0017c0040t0007g0022 a0020c0020t0032g0099 a0023c0035t0001g0064	14	182	0.0769	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTTTCGTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(23): Show AAGGAAAGGAAAGGAAAGGAAAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG02809.hp2 HG01261.hp2 HG02055.hp1 HG02809.hp2	a0002 a0024 a0002 a0024	a0002c0002 a0024c0018 a0002c0002 a0024c0018	a0002c0002t0001 a0002c0002t0003 a0024c0018t0001 a0002c0002t0001 a0002c0002t0003 a0024c0018t0001	a0002c0002t0001g0071 a0002c0002t0003g0061 a0024c0018t0001g0009 a0002c0002t0001g0071 a0002c0002t0003g0061 a0024c0018t0001g0009	3	182	0.0165	30	c.-36 others(51): Show c.-361+23326_-361+23327insCTCCTCTCCTTTCCTTTCCTTTCC TTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp1 HG02056.hp2 others(22): Show HG00609.hp2 HG01346.hp1 HG02056.hp2 HG02486.hp2 HG02523.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18973.hp1 NA19060.hp2 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0015	a0001c0001 a0002c0002 a0002c0004 others(10): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0005c0006 a0006c0008 a0006c0043 a0007c0009 a0009c0025 a0010c0010 a0011c0007 a0013c0013 a0015c0055	a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 others(15): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0004t0001 a0003c0003t0001 a0003c0003t0009 a0005c0006t0003 a0006c0008t0040 a0006c0043t0010 a0007c0009t0002 a0007c0009t0049 a0009c0025t0031 a0010c0010t0006 a0011c0007t0002 a0013c0013t0005 a0015c0055t0004	a0001c0001t0001g0178 a0002c0002t0003g0007 a0002c0002t0003g0061 others(22): Show a0001c0001t0001g0178 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0138 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0004t0001g0080 a0003c0003t0001g0042 a0003c0003t0001g0130 a0003c0003t0009g0055 a0005c0006t0003g0070 a0005c0006t0003g0166 a0006c0008t0040g0154 a0006c0043t0010g0128 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0049g0005 a0009c0025t0031g0058 a0010c0010t0006g0014 a0011c0007t0002g0169 a0011c0007t0002g0172 a0013c0013t0005g0100 a0015c0055t0004g0067	25	182	0.1374	30	c.-48 others(51): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0136 a0002c0002t0007g0136	1	182	0.0055	30	c.-61 others(51): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TATACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(23): Show TAACATAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18950.hp1 HG03239.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0069 a0002c0002t0001g0032 a0002c0002t0001g0069	2	298	0.0067	30	c.252 others(49): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTTA TGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	298	0.0034	30	c.251 others(47): Show c.251+9763_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(23): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0011 a0034c0038t0002 a0034c0038t0011	a0034c0038t0002g0165 a0034c0038t0011g0164 a0034c0038t0002g0165 a0034c0038t0011g0164	2	402	0.0050	30	c.916 others(37): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(42): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(23): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG01261.hp2 HG02300.hp1 others(17): Show HG00280.hp2 HG01261.hp2 HG02300.hp1 HG02300.hp2 HG02809.hp1 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp1 NA18971.hp2 NA18978.hp2 NA18993.hp1 NA19066.hp2 NA19080.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0005 a0005	a0005c0006 a0005c0018 a0005c0006 a0005c0018	a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 others(6): Show a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 a0005c0006t0090 a0005c0006t0119 a0005c0006t0120 a0005c0018t0003 a0005c0018t0017 a0005c0018t0018	a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 others(16): Show a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 a0005c0006t0012g0286 a0005c0006t0012g0329 a0005c0006t0012g0335 a0005c0006t0012g0336 a0005c0006t0012g0339 a0005c0006t0012g0340 a0005c0006t0028g0005 a0005c0006t0028g0194 a0005c0006t0090g0359 a0005c0006t0119g0192 a0005c0006t0120g0193 a0005c0018t0003g0175 a0005c0018t0017g0139 a0005c0018t0017g0182 a0005c0018t0017g0356 a0005c0018t0018g0205	20	402	0.0498	30	c.915 others(37): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(43): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	252	0.0040	30	c.355 others(49): Show c.355+56826_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03471.hp1 others(1): Show HG02630.hp1 HG02717.hp2 HG03471.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015	4	428	0.0094	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	428	0.0023	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTATATATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01993.hp1 HG02080.hp1 others(2): Show HG01256.hp1 HG01993.hp1 HG02080.hp1 HG02486.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0079 others(2): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0079 a0002c0002t0001g0009 a0002c0002t0001g0078	5	428	0.0117	30	c.-41 others(41): Show c.-4104_-4103insGTATATATATATATATATATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01081.hp1 others(2): Show HG00438.hp2 HG00621.hp2 HG01081.hp1 NA18961.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0001 a0001c0001t0001g0038	5	410	0.0122	30	c.41 others(41): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding					4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69614368	T T	TCTTTCTT others(23): Show TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0017 a0001c0008t0017	a0001c0008t0017g0046 a0001c0008t0017g0046	1	76	0.0132	30	c.309 others(49): Show c.309+14406_309+14407insCTTTCTTTTCTTTCTTTCTTTCTTTC TTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	76	0.0132	30	c.310 others(49): Show c.310-28820_310-28819insATATATATATATATATATATATATAT ATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003172	T T	TTATATGA others(23): Show TTATATGAATATATTATATATGAATATATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	76	0.0132	30	c.522 others(51): Show c.522+103733_522+103762dupTATATATGAATATATTATATATGA ATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003659	T T	TATATATA others(23): Show TATATATAATATATATGAATGTTATATATGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01175.hp1 others(6): Show HG01081.hp1 HG01081.hp2 HG01175.hp1 HG02165.hp2 HG02647.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0005t0030	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0022g0032 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0005t0030g0013	9	76	0.1184	30	c.522 others(51): Show c.522+104182_522+104183insTATATATGAATATATAATATATAT GAATGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003693	T T	TATATATA others(23): Show TATATATAATATATATGAATGTTATATATGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0006g0038 a0001c0001t0014g0070	2	76	0.0263	30	c.522 others(51): Show c.522+104216_522+104217insTATATATGAATATATAATATATAT GAATGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(23): Show TCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	76	0.0132	30	c.523 others(51): Show c.523-106796_523-106767dupTCTCCTCTCCTCTCCTCTCCTCTC CTCTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0069 a0001c0003t0008g0069	1	76	0.0132	30	c.690 others(47): Show c.690+8593_690+8594insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18612.hp1 HG02165.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0052 a0001c0001t0002g0053	2	76	0.0263	30	c.691 others(51): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	266	0.0038	30	c.446 others(49): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(23): Show CACACACACACACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	266	0.0038	30	c.446 others(49): Show c.446-57530_446-57529insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	372	0.0027	30	c.-20 others(45): Show c.-20+417_-20+446dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19						chr12	TogoVar
AVL9_chr7_32490489_32593726	32503365	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0270 a0001c0001t0044g0270	1	330	0.0030	30	c.93+ others(45): Show c.93+7564_93+7565insCACACACACACACACACACACACACACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04199.hp2 NA19068.hp2 HG00423.hp1 HG04199.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0045 a0001c0001t0101 a0001c0001t0014 a0001c0001t0045 a0001c0001t0101	a0001c0001t0014g0259 a0001c0001t0045g0281 a0001c0001t0101g0309 a0001c0001t0014g0259 a0001c0001t0045g0281 a0001c0001t0101g0309	3	330	0.0091	30	c.93+ others(45): Show c.93+7566_93+7567insCACACACACACACACACACACACACACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179381785	A A	ATTTTATT others(23): Show ATTTTATTTTTTGGAGATGGAGTTTTGCTGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0260 a0002c0001t0001g0260	1	356	0.0028	30	c.582 others(45): Show c.582-913_582-884dupTTTATTTTTTGGAGATGGAGTTTTGCTGTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02647.hp2 others(1): Show HG01884.hp2 HG02486.hp1 HG02647.hp2 HG02886.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 others(1): Show a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 a0009c0013t0001g0098	4	356	0.0112	30	c.100 others(47): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02723.hp2 NA18990.hp2 others(1): Show HG00733.hp1 HG02723.hp2 NA18990.hp2 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0015c0029 a0001c0003 a0015c0029	a0001c0003t0001 a0015c0029t0001 a0001c0003t0001 a0015c0029t0001	a0001c0003t0001g0216 a0001c0003t0001g0266 a0001c0003t0001g0288 others(1): Show a0001c0003t0001g0216 a0001c0003t0001g0266 a0001c0003t0001g0288 a0015c0029t0001g0271	4	356	0.0112	30	c.209 others(49): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTTT CTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25						chr1	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(23): Show CCCAACCCCAACCCCAACCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG01109.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0068 a0001c0003t0021g0069 a0001c0003t0021g0068 a0001c0003t0021g0069	2	378	0.0053	30	c.22 others(41): Show c.2212_*2213insTGTTGGGGTTGGGGTTGGGGTTGGGGTTGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1530		chr16	TogoVar
AXIN1_chr16_282440_357723	285966	T T	TCCCAACC others(23): Show TCCCAACCCCAACCCCAACCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0215 a0001c0003t0012g0215	1	378	0.0027	30	c.21 others(41): Show c.2155_*2156insGTTGGGGTTGGGGTTGGGGTTGGGGTTGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1473		chr16	TogoVar

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