Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
AUNIP_chr1_25829006_25864457	25862012	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03540.hp2 others(1): Show HG02559.hp1 HG02647.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0012 a0001c0001t0020 a0001c0007t0012 a0001c0001t0012 a0001c0001t0020 a0001c0007t0012	a0001c0001t0012g0042 a0001c0001t0020g0215 a0001c0007t0012g0214 a0001c0001t0012g0042 a0001c0001t0020g0215 a0001c0007t0012g0214	4	182	0.0220	-12	c.-26 others(23): Show c.-2667_-2656delTTTTTTTTTTTT		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					2556		chr1	TogoVar
AURKA_chr20_56364390_56397215	56374016	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02572.hp1 others(3): Show HG02257.hp1 HG02486.hp2 HG02572.hp1 NA18953.hp1 NA19057.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0012 a0002c0002t0002g0125 a0002c0002t0002g0126 others(1): Show a0001c0001t0002g0012 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131	6	212	0.0283	-12	c.706 others(27): Show c.706-472_706-461delGTGTGTGTGTGT		AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding	6/8						chr20	TogoVar
AURKB_chr17_8199734_8215575	8208593	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02109.hp1 others(7): Show HG01891.hp1 HG02083.hp2 HG02109.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03540.hp2 HG03710.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0058 a0001c0001t0001g0074 a0002c0002t0001g0021 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0074 a0002c0002t0001g0021 a0002c0002t0001g0098 a0004c0004t0001g0043	10	248	0.0403	-12	c.49- others(25): Show c.49-765_49-754delATTTATTTATTT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	2/8						chr17	TogoVar
AURKB_chr17_8199734_8215575	8214581	GATATATA others(5): Show GATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02258.hp1 others(3): Show HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048	6	376	0.0160	-12	c.-40 others(23): Show c.-4089_-4078delATATATATATAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4007		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239471	AAAATATA others(5): Show AAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02976.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0017 a0001c0001t0001g0044	4	408	0.0098	-12	c.40 others(23): Show c.4055_*4066delAAATATATATAT		AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding					3924		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69610541	GACAGTTT others(5): Show GACAGTTTCCTGC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	76	0.0132	-12	c.309 others(31): Show c.309+10582_309+10593delAGTTTCCTGCAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69671486	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp2 HG02257.hp2 others(1): Show HG01243.hp2 HG01934.hp2 HG02257.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0003c0011	a0001c0001t0006 a0001c0004t0012 a0001c0007t0006 others(1): Show a0001c0001t0006 a0001c0004t0012 a0001c0007t0006 a0003c0011t0007	a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0007t0006g0027 others(1): Show a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0007t0006g0027 a0003c0011t0007g0004	4	30	0.1333	-12	c.309 others(31): Show c.309+71551_309+71562delGTGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69689640	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02622.hp2 others(4): Show HG01243.hp1 HG01433.hp2 HG02622.hp2 HG03239.hp2 HG03453.hp1 HG03704.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0002c0002t0001 a0002c0002t0024	a0001c0001t0001g0034 a0001c0001t0003g0061 a0001c0001t0003g0066 others(4): Show a0001c0001t0001g0034 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0007g0055 a0001c0001t0008g0063 a0002c0002t0001g0057 a0002c0002t0024g0059	7	16	0.4375	-12	c.309 others(31): Show c.309+89722_309+89733delATTTATTTATTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69762293	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	7	0.1429	-12	c.310 others(33): Show c.310-136973_310-136962delTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69806197	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	24	0.0417	-12	c.310 others(31): Show c.310-93069_310-93058delTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876343	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	75	0.0133	-12	c.310 others(31): Show c.310-22941_310-22930delAAAAAATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp2 HG01952.hp1 others(4): Show HG00741.hp1 HG01934.hp2 HG01952.hp1 HG02165.hp1 HG02647.hp1 HG03017.hp1 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0011 a0005c0009 a0001c0001 a0003c0011 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0003c0011t0007 a0005c0009t0001	a0001c0001t0002g0053 a0001c0001t0004g0051 a0001c0001t0007g0040 others(4): Show a0001c0001t0002g0053 a0001c0001t0004g0051 a0001c0001t0007g0040 a0001c0001t0010g0064 a0001c0001t0023g0075 a0003c0011t0007g0004 a0005c0009t0001g0043	7	12	0.5833	-12	c.310 others(31): Show c.310-22752_310-22741delATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69886763	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0043 a0005c0009t0001g0043	1	19	0.0526	-12	c.310 others(31): Show c.310-12487_310-12476delGTGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0007 a0002c0002t0031g0007	1	3	0.3333	-12	c.310 others(29): Show c.310-7486_310-7475delTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69926441	GTCTGTCT others(5): Show GTCTGTCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG03579.hp1 others(1): Show HG02257.hp2 HG02622.hp1 HG03579.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0010 a0001c0001 a0001c0004 a0002c0010	a0001c0001t0006 a0001c0001t0034 a0001c0004t0012 others(1): Show a0001c0001t0006 a0001c0001t0034 a0001c0004t0012 a0002c0010t0033	a0001c0001t0006g0010 a0001c0001t0034g0018 a0001c0004t0012g0025 others(1): Show a0001c0001t0006g0010 a0001c0001t0034g0018 a0001c0004t0012g0025 a0002c0010t0033g0014	4	50	0.0800	-12	c.522 others(31): Show c.522+26947_522+26958delGTCTATCTATCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	2	0.5000	-12	c.522 others(31): Show c.522+47098_522+47109delACACACACACAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69948773	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(15): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(15): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	18	54	0.3333	-12	c.522 others(31): Show c.522+49312_522+49323delATTTATTTATTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004809	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0017 a0002c0002t0036g0017	1	44	0.0227	-12	c.522 others(33): Show c.522+105332_522+105343delTTTATTTATTTA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70149117	ATGTTATT others(5): Show ATGTTATTACCAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG03041.hp2 HG00280.hp1 HG00597.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068	3	76	0.0395	-12	c.660 others(31): Show c.660+14547_660+14558delTGTTATTACCAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	14	0.0714	-12	c.660 others(31): Show c.660+22345_660+22356delAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70243231	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02615.hp1 HG02717.hp2 others(2): Show HG00597.hp1 HG02615.hp1 HG02717.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0014 a0001c0001t0032 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0032 a0001c0005t0030	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0014g0070 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0014g0070 a0001c0001t0032g0016 a0001c0005t0030g0013	5	17	0.2941	-12	c.660 others(33): Show c.660+108698_660+108709delGTGTGTGTGTGT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70278580	AACATACA others(5): Show AACATACATACAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01081.hp1 others(36): Show HG00099.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18952.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002 a0002c0010 a0003c0011 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033 a0003c0011t0007 a0004c0006t0003	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(36): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0072 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0019g0076 a0001c0001t0022g0031 a0001c0001t0023g0075 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0005t0030g0013 a0001c0007t0006g0027 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014 a0003c0011t0007g0004 a0004c0006t0003g0030	39	59	0.6610	-12	c.660 others(33): Show c.660+144043_660+144054delCATACATACATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70363333	GCTATTGA others(5): Show GCTATTGATATAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02615.hp2 others(10): Show HG01175.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 others(9): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 others(10): Show a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	13	76	0.1711	-12	c.661 others(31): Show c.661-72415_661-72404delTTGATATACCTA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01952.hp2 NA18612.hp2 others(2): Show HG01243.hp2 HG01952.hp2 NA18612.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0004t0012 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006	a0001c0001t0001g0034 a0001c0001t0005g0005 a0001c0004t0012g0025 others(2): Show a0001c0001t0001g0034 a0001c0001t0005g0005 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0007t0006g0027	5	16	0.3125	-12	c.661 others(31): Show c.661-58389_661-58378delTATATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70534396	ATTTGTTT others(5): Show ATTTGTTTGTTTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0031 a0001c0001t0022g0031	1	18	0.0556	-12	c.690 others(31): Show c.690+98651_690+98662delGTTTGTTTGTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70609956	TTTTTTGT others(5): Show TTTTTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp2 HG01433.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0074 a0001c0003t0008g0069 a0001c0001t0001g0074 a0001c0003t0008g0069	2	62	0.0323	-12	c.691 others(31): Show c.691-88610_691-88599delTTTGTTGTTGTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70609959	TTTGTTGT others(5): Show TTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02647.hp1 others(3): Show HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG03225.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0023 a0001c0001t0034 a0002c0002t0026	a0001c0001t0001g0073 a0001c0001t0004g0054 a0001c0001t0019g0076 others(3): Show a0001c0001t0001g0073 a0001c0001t0004g0054 a0001c0001t0019g0076 a0001c0001t0023g0075 a0001c0001t0034g0018 a0002c0002t0026g0011	6	28	0.2143	-12	c.691 others(31): Show c.691-88577_691-88566delGTTGTTGTTGTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70716636	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(14): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG01243.hp1 HG01433.hp2 HG01934.hp2 HG01952.hp1 HG02886.hp2 HG03139.hp1 HG03225.hp1 HG03579.hp2 HG03704.hp2 NA18612.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0003t0027 a0001c0004t0012 a0002c0002t0036 a0003c0011t0007	a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 others(14): Show a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0005g0028 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0021g0060 a0001c0003t0027g0009 a0001c0004t0012g0025 a0002c0002t0036g0017 a0003c0011t0007g0004	17	24	0.7083	-12	c.742 others(31): Show c.742+18034_742+18045delAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70729852	TTGTATGT others(5): Show TTGTATGTATGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG03579.hp2 others(1): Show HG00280.hp2 HG01433.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0021	a0001c0001t0003g0072 a0001c0001t0007g0055 a0001c0001t0016g0003 others(1): Show a0001c0001t0003g0072 a0001c0001t0007g0055 a0001c0001t0016g0003 a0001c0001t0021g0060	4	26	0.1538	-12	c.742 others(31): Show c.742+31266_742+31277delGTATGTATGTAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70757807	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02886.hp2 HG02258.hp1 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0027 a0001c0003t0008 a0001c0003t0027	a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009	3	8	0.3750	-12	c.743 others(29): Show c.743-5049_743-5038delTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70786374	AGTTACAG others(5): Show AGTTACAGCAATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02630.hp2 others(2): Show HG02055.hp1 HG02258.hp1 HG02630.hp2 HG03225.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0019 a0001c0003t0008 others(1): Show a0001c0001t0011 a0001c0001t0019 a0001c0003t0008 a0002c0002t0036	a0001c0001t0011g0041 a0001c0001t0019g0076 a0001c0003t0008g0039 others(2): Show a0001c0001t0011g0041 a0001c0001t0019g0076 a0001c0003t0008g0039 a0001c0003t0008g0069 a0002c0002t0036g0017	5	76	0.0658	-12	c.230 others(29): Show c.2308+343_2308+354delGCAATTGTTACA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33863053	TAGACCAG others(5): Show TAGACCAGTGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19030.hp1 NA21309.hp2 HG02257.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0107 a0001c0001t0004g0083 a0001c0001t0005g0046 a0001c0001t0001g0107 a0001c0001t0004g0083 a0001c0001t0005g0046	3	264	0.0114	-12	c.35 others(23): Show c.3548_*3559delTTCCACTGGTCT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding					3173		chr15	TogoVar
AVEN_chr15_33861227_34044204	33868544	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp2 others(13): Show HG01884.hp1 HG02145.hp2 HG02486.hp2 HG02622.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA19240.hp1 NA20905.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0004c0005 others(1): Show a0001c0001 a0004c0004 a0004c0005 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0004c0005t0007 a0007c0010t0001	a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0234 a0001c0001t0004g0109 a0004c0004t0001g0016 a0004c0005t0007g0265 a0007c0010t0001g0021	16	91	0.1758	-12	c.613 others(27): Show c.613-701_613-690delTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	4/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33894820	AAATAATA others(5): Show AAATAATAACAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG02602.hp1 HG01069.hp2 HG01192.hp2 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0012	3	258	0.0116	-12	c.446 others(31): Show c.446-18837_446-18826delATTGTTATTATT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	6	0.1667	-12	c.446 others(31): Show c.446-23477_446-23466delAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33925980	TATCCTTG others(5): Show TATCCTTGAAGCA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 NA18951.hp1 others(4): Show HG01169.hp2 HG01257.hp1 NA18951.hp1 NA18968.hp1 NA18979.hp2 NA19079.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0002g0185 a0001c0001t0002g0256 a0002c0002t0001g0221	7	264	0.0265	-12	c.446 others(31): Show c.446-49997_446-49986delTGCTTCAAGGAT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(8): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01884.hp2 HG02572.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG06807.hp1 NA18968.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0004c0005 a0006c0011 others(1): Show a0001c0001 a0004c0005 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0004c0005t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0005t0007 a0006c0011t0001 a0007c0010t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0256 a0004c0005t0007g0264 a0006c0011t0001g0183 a0007c0010t0001g0021	11	13	0.8462	-12	c.446 others(31): Show c.446-55366_446-55355delAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933518	CACACACA others(5): Show CACACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	251	0.0040	-12	c.446 others(31): Show c.446-57535_446-57524delCTCTCTGTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(5): Show CACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 HG03927.hp1 others(3): Show HG00558.hp2 HG02040.hp1 HG03927.hp1 HG04204.hp2 NA18979.hp1 NA18987.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0193 a0001c0001t0001g0250 a0003c0003t0001g0262	6	172	0.0349	-12	c.446 others(31): Show c.446-57537_446-57526delCTCTCTCTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933522	CACAGAGA others(5): Show CACAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG02015.hp2 others(3): Show HG00735.hp1 HG01433.hp2 HG02015.hp2 HG03209.hp1 NA18939.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0181 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0181 a0001c0001t0001g0218 a0001c0001t0002g0233 a0001c0001t0005g0022	6	232	0.0259	-12	c.446 others(31): Show c.446-57539_446-57528delCTCTCTCTCTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02738.hp1 HG02886.hp2 others(1): Show HG00438.hp1 HG02738.hp1 HG02886.hp2 NA18747.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0003c0003t0003 a0004c0004t0001 a0001c0001t0002 a0003c0003t0003 a0004c0004t0001	a0001c0001t0002g0159 a0001c0001t0002g0186 a0003c0003t0003g0013 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0186 a0003c0003t0003g0013 a0004c0004t0001g0019	4	191	0.0209	-12	c.446 others(31): Show c.446-57541_446-57530delCTCTCTCTCTCT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19043.hp2 HG03453.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0113 a0007c0010t0001g0021 a0001c0001t0001g0113 a0007c0010t0001g0021	2	7	0.2857	-12	c.445 others(31): Show c.445+40101_445+40112delTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33983148	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 HG01952.hp1 others(6): Show HG01169.hp2 HG01257.hp1 HG01952.hp1 NA18951.hp1 NA18968.hp1 NA18987.hp2 NA18998.hp1 NA19060.hp1 NA19064.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0008c0009t0002 a0001c0001t0001 a0001c0001t0002 a0008c0009t0002	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(6): Show a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0256 a0008c0009t0002g0020	9	239	0.0377	-12	c.445 others(31): Show c.445+19872_445+19883delTACACACACACA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33986633	GACCATAA others(5): Show GACCATAAGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01169.hp1 others(10): Show HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp1 HG03942.hp1 HG04228.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0003 a0003c0007t0003 a0003c0003t0003 a0003c0007t0003	a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 others(9): Show a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0008 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0007t0003g0001 a0003c0007t0003g0009	13	264	0.0492	-12	c.445 others(31): Show c.445+16387_445+16398delGAGCCTTATGGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33989450	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	197	0.0051	-12	c.445 others(31): Show c.445+13570_445+13581delTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	34038912	CCCGCCGC others(5): Show CCCGCCGCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG01069.hp2 HG01106.hp2 others(12): Show HG00099.hp2 HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0003 a0003c0007t0003 a0003c0003t0001 a0003c0003t0003 a0003c0007t0003	a0003c0003t0001g0262 a0003c0003t0003g0002 a0003c0003t0003g0003 others(11): Show a0003c0003t0001g0262 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0007t0003g0001 a0003c0007t0003g0009	15	256	0.0586	-12	c.123 others(19): Show c.123_134delAGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly45del	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/6	292/1633	123/1089	41/362			chr15	TogoVar
AVL9_chr7_32490489_32593726	32495327	CCCTCCCC others(5): Show CCCTCCCCCCGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00621.hp2 others(43): Show HG00408.hp2 HG00544.hp2 HG00621.hp2 HG01099.hp1 HG01243.hp1 HG01358.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02135.hp1 HG02257.hp2 HG02300.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp2 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA18984.hp2 NA18988.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0002c0012	a0001c0001t0008 a0001c0001t0086 a0002c0003t0005 others(16): Show a0001c0001t0008 a0001c0001t0086 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0018 a0002c0003t0024 a0002c0003t0027 a0002c0003t0034 a0002c0003t0038 a0002c0003t0061 a0002c0003t0062 a0002c0003t0064 a0002c0003t0082 a0002c0003t0083 a0002c0003t0090 a0002c0003t0091 a0002c0005t0021 a0002c0012t0005	a0001c0001t0008g0162 a0001c0001t0086g0174 a0002c0003t0005g0116 others(43): Show a0001c0001t0008g0162 a0001c0001t0086g0174 a0002c0003t0005g0116 a0002c0003t0005g0129 a0002c0003t0005g0135 a0002c0003t0005g0140 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0147 a0002c0003t0005g0151 a0002c0003t0005g0156 a0002c0003t0005g0172 a0002c0003t0009g0003 a0002c0003t0009g0114 a0002c0003t0009g0132 a0002c0003t0009g0134 a0002c0003t0009g0137 a0002c0003t0009g0169 a0002c0003t0009g0325 a0002c0003t0012g0115 a0002c0003t0012g0127 a0002c0003t0012g0130 a0002c0003t0012g0155 a0002c0003t0012g0159 a0002c0003t0012g0160 a0002c0003t0018g0112 a0002c0003t0018g0139 a0002c0003t0018g0143 a0002c0003t0018g0168 a0002c0003t0024g0128 a0002c0003t0024g0164 a0002c0003t0027g0117 a0002c0003t0027g0144 a0002c0003t0027g0145 a0002c0003t0034g0171 a0002c0003t0038g0149 a0002c0003t0038g0158 a0002c0003t0061g0163 a0002c0003t0062g0003 a0002c0003t0064g0136 a0002c0003t0082g0133 a0002c0003t0083g0131 a0002c0003t0090g0150 a0002c0003t0091g0165 a0002c0005t0021g0154 a0002c0012t0005g0157	46	305	0.1508	-12	c.-38 others(21): Show c.-382_-371delCCTCCCCCCGCT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding					161		chr7	TogoVar
AVL9_chr7_32490489_32593726	32503365	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19054.hp1 HG02717.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0096 a0001c0002t0002 a0001c0008t0096	a0001c0002t0002g0108 a0001c0008t0096g0308 a0001c0002t0002g0108 a0001c0008t0096g0308	2	223	0.0090	-12	c.93+ others(27): Show c.93+7565_93+7576delTATATATACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32536177	CATGTACA others(5): Show CATGTACAGCTAT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0264 a0001c0001t0067g0264	1	328	0.0030	-12	c.94- others(27): Show c.94-6957_94-6946delAGCTATATGTAC		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19240.hp1 NA18962.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0057 a0001c0001t0010 a0001c0001t0057	a0001c0001t0010g0244 a0001c0001t0057g0247 a0001c0001t0010g0244 a0001c0001t0057g0247	2	3	0.6667	-12	c.94- others(27): Show c.94-2236_94-2225delTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar

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