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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(849): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	348	0.0029	856	c.51+ others(871): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTAGTATACATACTACATGATATACATAGTATGTAG TATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287152	T T	TACAATGT others(849): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	344	0.0029	856	c.51+ others(871): Show c.51+2209_51+2210insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTAGTATACATACTACAT GATATACATAGTATGTAGTATACATACTACATGATATACATAGTATGTAG TATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(849): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATATAT TATATATAATATAGAATATAGAATATATATTATATATTATATATAATATA TATTATATATAATATAGAATATAGAATATATATTATATATAATATAGAAT ATAGAATATATATTATATATAATATAGAATATAGAATATATATTATATAT AATATAGAATATAGAATATATATTATGTATATATAATATAGAATGTATAT TCTATATTATATATAATATAGAATATATAATATATTTATATATAATATAG AATATATAACATATTATATATAAATATAATATATATTCTATATTTAATAG AATATATAATATACATTCTATATTTATCTAGAATATATAATATATTCTAT ATAAATATGGAATATATATTATATATTCTATATTTATATAGAATATATAA TATATTCTATATAATATATATTCTATATATATATAGAATATATTCTATAT ATATATAGAATATATATTATATATATAGAAAATATATTATATATTCTATA TTTATATATAATATATATATTATATTCTATATTTATATAGAATATAAATA TATAATATATAATATTTGTATATGTACTATATATTATATAATATATATAA TACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	57	0.0175	856	c.31 others(867): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATATAAATATATTATATA TTCTATATTATATATAATATAGAATATACATTCTATATTATATATACATA ATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTAT ATTATATATAATATATATTCTATATTCTATATTATATATAATATATATTC TATATTCTATATTATATATAATATATATTATATATAATATATAATATATA TTCTATATTCTATATTATATATAATATATATTATATATAATATATAATAT ATATTCTATATTTATATATATCATATATAATATATATTCTATATTTATAT ATAATATAATATATATTCTATATTTATATATAATATATAATATATATTCT ATATTTAATATTATATATAATATATATTCTATATTTATATATAATATATA TTCTATATTTATATATTATATATAATATATATTCTGTATTTATATATATT ATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(849): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAG GGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0166 a0002c0002t0020g0166	1	97	0.0103	856	c.923 others(875): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCACTCCCCC TCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTT CATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(849): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	247	0.0040	856	c.162 others(873): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCCTTC others(849): Show TCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTC TTCTTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	215	0.0047	856	c.105 others(871): Show c.105-737_105-736insCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTC TCCTTTCCCCTCCTTCTTCTTTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635180	C C	CCTTTCCC others(849): Show CCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCT CCTTCTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0007 a0001c0006t0001g0007	1	224	0.0045	856	c.105 others(871): Show c.105-713_105-712insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCC CTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTC CCCTCCTTCTTCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(849): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTGGATG GATAGAAGGATGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGAC GGAGAGATGGATAGATGGATAGATGGATGATGGATGGATGGATGGAGAGA AGGATGGATGGGTGGGGAGGTGGGTGGGTGGTGGATGGGTGGATGGATGG ATGGGTGGGGAGGTGGGCGGGTGATGGATGGATGGATGCAGAGGTGGGTG GATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGA TGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGGATG CATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGAAGGA TGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGAGGTG GATGGATGGATGGATGGATGAAGGATGGATGGGTGGGAGGTGGGTGGACG GATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGA TGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATG GATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGA TGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGATG GATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGGA TAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGATG GACAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	102	0.0098	856	c.772 others(871): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCACCCATC CATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCATCCAC CCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAC CCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCC ATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCAT CCATCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCAC CCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCA TCCATCTATCCATCTATCCATCTCTCCGTCCATCCACCCACCCACCCACC CACCTCCCCACCCATCATCCTTCTATCCATCCACCCATCCATCCATCCAT CCATCCATCCCTCCCCATCCATCCATCCATCTCCCTACCCATTCATCCTT CTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
GTPBP6_chrX_299759_323796	322348	A A	AAAAAAAG others(849): Show AAAAAAAGAAAAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAA AAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGG GCAATATGGTGAGACCCCATTATCTACAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAG GATTGCTTGAGCCCAGGAGTTTGATGCCAGCATGGGCAATATGGTAAGAC CCTATTATCTACAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCG GGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAA GACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAGAAAAATTAGCCTG GTGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGACGCTGCGGTGGG AGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAG ACCCTATTATCTACAAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGT GGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTG CTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAGTATGGTAAGACCCTAT TATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0139 a0007c0011t0003g0139	1	151	0.0066	856	c.-35 others(867): Show c.-3562_-3561insGTAGATAATAGGGTCTTACCATACTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCGCAGCGTCCCGAGCAGCTGGG ACCACAGGAACCCACCACCACACCAGGCTAATTTTTCTTTTTTTTTTTTT TTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTT TTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCAT CAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTG GGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAG ATAATGGGGTCTCACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTC AAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCC ACCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCACACCAGGC TAATTTTTCTTTTTTCTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3553		chrX	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(849): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	89	0.0112	856	c.666 others(873): Show c.666-4737_666-4736insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(849): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGGAACCAATACATACATGGAACATATA TATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTG GAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGC AACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0027 a0002c0002t0006g0027	1	204	0.0049	856	c.-36 others(867): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAA CCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(849): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCCTCTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCT CCCCTCCCCCCCTCTCCCTCCCCCTCCCCCCATCCCCTCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCCCCTCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCTTCCCCCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCTCCGTCCCCCTCTCCCCCT CCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCTCCTTCCCTCTCCCCCTCCCCTCCTCCCTCTCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC CTCCTTCCCTCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCT CCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0092 a0004c0007t0004g0092	1	144	0.0069	856	c.11 others(877): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCCTCTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCT CCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCCCCTCTCCCTCCCCCTCCCCCCATC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCC CCCCTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCC TCCCCTTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCTCC GTCCCCCTCTCCCCCTCCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCTCCTTCCCTCTCCCCCTCCCCT CCTCCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCTCCTTCCCT CTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCC TGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514139	C C	CCTTCCTC others(849): Show CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTTCCCTCTCTC CCTCCTCCCTCCCTCCCTCCCTCCTCCCTTCCTCCCTTCCTCTCTCCCTC CCTCCCTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCTCTCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTTCC TCCCTTCCTCTCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCTCTCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	251	0.0040	856	c.-84 others(873): Show c.-84+9387_-84+9388insTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTTCCCTCTCTCCCTCCTCCCTCCCTCCCTCCCTCCTCCCTTC CTCCCTTCCTCTCTCCCTCCCTCCCTCCTCCCTTCCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCTCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCC TCCCTCCTCCCTCCCTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTC CCTCCCTCTCTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCT CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
LDLRAD4_chr18_13213760_13657751	13261974	C C	CTGTGCGT others(849): Show CTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTC CCGTGTGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGG AAACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGG CTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAG TCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGTGT GTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGC GGCCCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTG AGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGC GTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCCCGTGC AGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTG AGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTGTGC ATGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGT GTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAA ACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGGCT CTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGAAACTGAGTC CCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGTGTGGCTCTGTGTGT GTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGT GGCTCTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0040 a0001c0001t0036 a0001c0001t0040	a0001c0001t0036g0129 a0001c0001t0040g0127 a0001c0001t0036g0129 a0001c0001t0040g0127	2	176	0.0114	856	c.-46 others(877): Show c.-466-16127_-466-16126insCGTGGGGGCTGAGTCCCGTGTGGC TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGAAACTGAGT CCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTG TGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCG GCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGA GTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCTCTGTG CGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTG CGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCTCTGTGCGTGGAAACT GAGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTG TGTGGAAACTGAGTCCCGTGCAGCTCTGTGCGTGGAAACTGAGTCCCGTG TGGCTCTGTGTGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCT GAGTCCCGTGTGGCCCTGTGCATGGAAACTGAGTCCCGTGTGGCTCTGTG TGCCTGGGGGATGAGTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCC CGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGTG GAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGC TCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGA GTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTG CGTGGAAACTGAGTCCCGTGTGGCTCTGTGTG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(849): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATA GTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATACAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATA GTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTA TATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAAC TATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTA TAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATA GTTATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGT TATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATA CACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAA ACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	348	0.0029	856	c.-29 others(867): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATAT ATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCAT ATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATAT ATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTAT GTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTT ATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(849): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCCACACTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0263 a0001c0002t0020g0263	1	215	0.0047	856	c.129 others(873): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC AATTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(849): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGAAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGGGGAGGGGGGAGGAG GGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGG GGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGG AGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGA GTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGG AGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGA AGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAG TAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGA GGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGA GTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGG TGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGA GGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGG GGGAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	8	0.1250	856	c.641 others(871): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCCCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTTCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTC CTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(849): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGAAAAGGGGGAGGAGGCGGAGCAG TAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGA GGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGA GTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGG TGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGA GGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGG GGGAGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	8	0.1250	856	c.641 others(871): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTC CTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTC CCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCC CCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCC CTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTC CTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(849): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGG GGAGGGGCAGGGGGAGGGGGAAAAGGGGGCGGGGAAGGGGGGGAAAAAGG GGCGGGGGGGAAGGGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGGGGGGAAGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGGAAGGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGG AGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAG AGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGTGGAGGGGGAGGGAA GGGAGGGAGGAGGGAGGGGGAGTGGAGGGGAGGGAGTGGAGGGGGAGGGG GAGGGAGGAGGGGGATGGGAGGGGAGGGGAGGGAGGGGAGAGCGGAGGGA AGGGGAGGAGGAGGCGGGAGGGGGAGGGAGGGAAGGCGGGAGGGAGGGAG GAGTGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	8	0.1250	856	c.250 others(871): Show c.250+581_250+582insCCCACTCCTCCCTCCCTCCCGCCTTCCCTC CCTCCCCCTCCCGCCTCCTCCTCCCCTTCCCTCCGCTCTCCCCTCCCTCC CCTCCCCTCCCATCCCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCTCCC CTCCACTCCCCCTCCCTCCTCCCTCCCTTCCCTCCCCCTCCACCCTCCCC CTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCC TCCCCTCACCCCTTTCCCCCCTTCCCCCCCTTCCCCTCACCCCTTTCCCC TTCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCCCCTTCCCCCCCGCCCCTTTTTCCCCCCCTTCCCCGCC CCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGC CTTCCTCCTTCCCCCTCCTTCCCCCCTCCTTCCCCCTCCTTCCCCCTCCT TCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GGAGGAGA others(849): Show GGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG GGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	62	0.0161	856	c.225 others(873): Show c.225-2388_225-2387insGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(849): Show CCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTGGCCACCCACTG CCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCC CCCCCCACCCACTTCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTG CCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCCCCCCACCCACTGCCCAGATACAGACCCGGCCACCCACTGCCCAGA TATGGACCCCCCCAACCCACTTCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCCCACCCACTTCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCAC TGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACAGACCCGGC CACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGAC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	250	0.0040	856	c.471 others(871): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTG GCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACA GACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCA GATACGGACCCCCCCCCACCCACTTCCCAGATACGGACCCCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC TCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCCCACCCACTGCCCAGATACAGACCCGGCCACC CACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATATGGACCCCC CCAACCCACTTCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATACG GACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCACC CACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGAT ACAGACCCGGCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
POLG_chr15_89311320_89339824	89325065	T T	TGAGAGAG others(849): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	379	0.0026	856	c.194 others(873): Show c.1949+384_1949+385insTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTC ACTCACTCACTCACTCTCACTCACTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACAC TCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCACTC TCTCACTCTCTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(849): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18968.hp2 HG01433.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0051 a0001c0001t0008g0077 a0001c0001t0002g0051 a0001c0001t0008g0077	2	200	0.0100	856	c.-26 others(875): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTGTAAAGGACATA TCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATA CATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAGTTTC CCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACA ACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTT TAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTG ATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGT CGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTTTTTTT TTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCA CAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGC AGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCG CGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGT GATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCAC ATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGT TTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAA GGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTC TACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	113	0.0088	856	c.-33 others(867): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0125 a0003c0005t0023g0125	1	74	0.0135	856	c.-33 others(867): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(849): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGA CCGCGCACCACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	74	0.0135	856	c.-33 others(867): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(849): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGAC GTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAG GAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCAC AGGAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0005 a0004c0012t0002g0005	1	2	0.5000	856	c.-12 others(875): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCC TGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGC ACCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCT CCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTA GCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTC TCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTT CTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SIGIRR_chr11_400716_419999	412006	G G	GGGGAGGG others(849): Show GGGGAGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTGCCCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGACCATG TCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAG TCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGAGG GTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTG GATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCG GTGGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG AGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCA GCTCTGACCATGTCTGAATGCAGTCGGGGGGGGGGGGGTGCCCAGCTCTG ACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTC TGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGG GCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGG GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGTGCCCA GCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGA TACAGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0107 a0004c0007t0001g0107	1	194	0.0052	856	c.-15 others(875): Show c.-153-1980_-153-1979insGACTGTATCCAGACATGGTCAGAGCT GGGCACCACCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGTATCCAGACATGTTCAGAGCTGGGCACCCCCCCCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATCC AGACATGGTCAGAGCTGAGCACCCCCCCCGCCCGACTGCATCCAGACATG GTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGC ACCCCCCTCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCC CCCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCGACTG CATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGCATCCAGACA TGGTCAGAGCTGGGCACCCCCCCCCCCCCACCGACTGTATCCAGACATGG TCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGG GCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTCCCCG ACTGTATCCAGACATGGTCAGAGCTGGGCACCCTCCCCCGACTGTATCCA GACATGGTCAGAGCTGGGCACCTCCCCCCGACTGTATCCAGACATGGTCA GAGCTGGGCACCTCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCG ACTGTATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGTATCCA GACATGTTCAGAGCTGGGCACCCCCCTCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(849): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATATTATATATTATAATATATAATATATATTACATATTATAATAT ATAATATATTATATTTTATAATATATATAAAATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATATATATTATAAAATATAATATATTATATTTTATAATATATAAT ATATCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	7	0.1429	856	c.17 others(875): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAATATATA ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(849): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATGTAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATATTATATATTATAATATATAATATATATTACATATTATAATAT ATAATATATTATATTTTATAATATATATAAAATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATATATATTATAAAATATAATATATTATATTTTATAATATATAAT ATATCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	7	0.1429	856	c.17 others(875): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTACATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAATATATA ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246325098	C C	CGCGGGGG others(849): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGT CGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAA GGAGTCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	135	0.0074	856	c.531 others(873): Show c.531+2102_531+2103insCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTG CCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCT GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(849): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAG GAGTCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG01496.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0087 a0001c0001t0002g0090	2	79	0.0253	856	c.531 others(873): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCTGCCCC CCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCC CTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46169756	A A	AACATCCT others(849): Show AACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTT TGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGG GAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCC TACTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAG CATCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGG ATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGA GCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCT CTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATC CTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATG GGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCC TCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGT GAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGC TCTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01433.hp1 others(4): Show HG00639.hp1 HG01109.hp2 HG01433.hp1 HG01517.hp1 HG02109.hp1 HG02145.hp1 HG03516.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0009c0014 a0004c0005 a0009c0014	a0004c0005t0002 a0004c0005t0005 a0004c0005t0013 others(1): Show a0004c0005t0002 a0004c0005t0005 a0004c0005t0013 a0009c0014t0028	a0004c0005t0002g0060 a0004c0005t0005g0092 a0004c0005t0005g0093 others(4): Show a0004c0005t0002g0060 a0004c0005t0005g0092 a0004c0005t0005g0093 a0004c0005t0013g0183 a0004c0005t0013g0184 a0004c0005t0013g0185 a0009c0014t0028g0061	7	167	0.0419	856	c.194 others(873): Show c.194-1099_194-1098insACACAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCT CACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGG GGGCTCCTCCACATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCT GGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAG GATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACA GAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGC TCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCAT CCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGAT GCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAG CAGGGGGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCT CCCCATCCACAGAGGATGTTCACAGAGTAGGGGGCTCCTCCCCATCCACA GAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCA CAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGG CTCCTCCCCATCCACAGAGGATGCTCACAAAGCAGGAGGCTCCTCCCCAT CCACAGAGGATGCTCACAGAGCAGAGGCTCCTCCCCATCCACAGAGGATG CTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAG GGGGCTCCTCCCCATCCACAGAGGATGT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(849): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAA GGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGG AGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAG GGGGGGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	3	0.3333	856	c.597 others(873): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(849): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGAG GGGGGGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0052 a0001c0001t0049g0052	1	3	0.3333	856	c.597 others(873): Show c.597+1546_597+1547insTCCCCCCCTCCTCCTTCCTTTCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCC TTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(849): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTA GAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCAT GGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGG GGACAGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0082 a0002c0001t0082	a0002c0001t0082g0288 a0002c0001t0082g0288	1	174	0.0057	856	c.299 others(873): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TEX19_chr17_82354247_82368775	82360633	A A	AAGTTTCC others(849): Show AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCC CAGTTTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGATTCC CCCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCGAAGTTTCCCTCAAGTTCCCCTCAGGTT CCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGT TCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAG TTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAG GTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTCA AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCC CAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAAATTTCCC TCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCC CCAGATTCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAATTTC CCTCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTC CCCCAGATTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTT TCCCTCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01257.hp1 others(1): Show HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 others(1): Show a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026	4	377	0.0106	856	c.-27 others(875): Show c.-271-1247_-271-1246insAGTTTCCCTCAGGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTT CCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCCCTCAAGTTTCCCTCAGT TTCCCTCAGGTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCGAAGT TTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCG GGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTC AGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCT CAGGTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCC CCAGTTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCC CTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTC CCCCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAGTTT CCCCCAGTTTCCCTCAGGTTCCCCCAGATTCCCTCAAGTTTCCCTCAGTT TCCCCCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAGT TTCCCCCAGTTTCCCTCAGGTTCCCCCAGATTCCCTCAAGTTCCCCTCAG GTTCCCCCAGTTTCCCTCAAGTTTCCCTCG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(849): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	248	0.0040	856	c.189 others(871): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(849): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACCCTACACACCCCACACACACCACACACA CACATCACATACCACACACACATCACATACCACACACAAACCACACACCA CACACACACCACACACCCCACACACACATCACATACCACACACAAACCAC ACACCCAACACACACATCACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCTACACACACCACACACCCCACACACACAT CACACACCACACACACCACACACACCCCACACACACCACACACACACATC ACATACCACACACCCGACACACGCCACACACACACCACACACCCCACGCA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACCACACACACACACCACACACACATCACATACCACACACAAA CCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCCAC ACACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCCACACACCCCACACCACACACACACCACACACCCCACACACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACA CATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCCA CACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	35	0.0286	856	c.35 others(875): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACA CACCACACACACACATCACATACCACACACACATCACATACCACACACAA ACCACACACCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCAACACACACATCACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACATCACACACCACACACACCACACACACCCCACACACACCAC ACACACACATCACATACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACACACACCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACCACACACACACCACACACCC CACACACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370009	G G	GTGTGTGT others(849): Show GTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGTGT GTAAGGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATG TGTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTGTATGCGTGTGTA TATGCGTGTATATGCGTGTGTATGCGTGTGTATATGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGTGCGTGTATA TGTGTGTGTGTGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGTG CGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTG TATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTG TGTATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTATGTGTG TGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTATATGTGTGTGTATATGTGTTCATGTGTATGTGTGTAAGGTGT GTATGTGTGTGTATATGTGTGTGTGTATATGCATGTGTGTATGTGTGTAT GTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGCATGTGTGTATGT GTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGT GTGTATGCGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTATGTGTATATGTGTGTGTATGTGTGTGTGTATATGC GTGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0187 a0002c0002t0017g0187	1	437	0.0023	856	c.-6- others(871): Show c.-6-3699_-6-3698insGTATGTGTGTGTGTATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTTC ATGTGTATGTGTGTAAGGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTG TATGCGTGTGTATATGCGTGTATATGCGTGTGTATGCGTGTGTATATGTG TGTATGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATA TGTGCGTGTATATGTGTGTGTGTGTGTGTGTATATGTGTGTATATGTGTG TGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTG TGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGCGTGTG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGCATGTGT GTATGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGC ATGTGTGTATGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGCGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTATGTGTATATGTGTGTGTATGTGT GTGTGTATATGCGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(849): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGAAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGG AGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	62	0.0161	856	c.53 others(867): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTTCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTC ACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCC CTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTT CCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(849): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGAGAGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGG AGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	62	0.0161	856	c.53 others(867): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTC ACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCC CTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTT CCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTAGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	143	0.0070	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTAGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02145.hp2 HG02257.hp1 others(20): Show HG01358.hp2 HG02145.hp2 HG02257.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18612.hp2 NA20300.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0013 a0019	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0001c0035 a0002c0004 a0009c0030 a0013c0036 a0019c0024	a0001c0001t0006 a0001c0002t0010 a0001c0002t0019 others(7): Show a0001c0001t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0034 a0001c0016t0006 a0001c0035t0010 a0002c0004t0004 a0009c0030t0010 a0013c0036t0019 a0019c0024t0002	a0001c0001t0006g0162 a0001c0001t0006g0164 a0001c0001t0006g0165 others(20): Show a0001c0001t0006g0162 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0002t0010g0320 a0001c0002t0010g0321 a0001c0002t0010g0322 a0001c0002t0010g0323 a0001c0002t0010g0324 a0001c0002t0019g0156 a0001c0002t0034g0325 a0001c0016t0006g0152 a0001c0016t0006g0153 a0001c0016t0006g0154 a0001c0035t0010g0142 a0002c0004t0004g0230 a0009c0030t0010g0326 a0013c0036t0019g0098 a0019c0024t0002g0150	23	165	0.1394	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0304 a0001c0001t0006g0304	1	143	0.0070	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0002 a0001c0002t0032g0002	1	143	0.0070	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTTGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0039 a0001c0040t0039	a0001c0040t0039g0004 a0001c0040t0039g0004	1	143	0.0070	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTTGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(849): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGG GGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTG GGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGG AGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAA GGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGG GTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGG GGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTG GGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGG GAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGA GAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGA GGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAGAAG GGTGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0106 a0001c0003t0010g0106	1	35	0.0286	856	c.-28 others(875): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTC CCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCC CCACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCC CCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCAC CCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCC TCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCT TCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCT CCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCC TCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTTTCCTCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(850): Show TTCACAGGGTCAGAGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCT GGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGA GGGGTCACAGGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTC ACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGG TCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAG GGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGG TTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGTTCACAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGAC TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGACGGCTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCT GGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGG GGCTGGGGGAGGGCTCACAGGGTCAGGGTCAGAGGGAGGGTTCGAGAAGG GGCTGGGGGAGGACTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGG GGGAGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03209.hp1 others(2): Show HG02486.hp2 HG03130.hp2 HG03209.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0091 a0001c0004t0024	a0001c0001t0001g0227 a0001c0002t0008g0036 a0001c0002t0011g0229 others(2): Show a0001c0001t0001g0227 a0001c0002t0008g0036 a0001c0002t0011g0229 a0001c0002t0091g0337 a0001c0004t0024g0040	5	301	0.0166	857	c.156 others(876): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCTCGAACCCTCCCT CTGACCCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAACCCTCCCCCAGCCCCTTCCAGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGA ACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCGTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTT CTCGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCC CTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGT GAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCC TCCCCCAGCCCCTTCCGGAACCCTCGCTCTGACCCTGTGAGCCCTCCCCC AGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCG TTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGG AACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCT CCCTCTGACCCTGTGAGCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(850): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC CGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAG CCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATC ACCTCAGCCCACCCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCC CCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACTCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACAT CACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	272	0.0037	857	c.61+ others(872): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTG TTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGG GGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGG TGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGT GTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGG TGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGGTGGACTGAGGTGACG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TGGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar

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