Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PKP3_chr11_389209_409908	401975	C C	CGCTCACC others(185): Show CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	187	0.0053	192	c.173 others(211): Show c.1738-1103_1738-1102insGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCCGGCCCCGC TCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CGGGACCCCGCTCACA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402254	C C	CACTCACA others(185): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCCGACCCGC TCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0030 a0001c0010t0001g0030	1	167	0.0060	192	c.173 others(209): Show c.1738-824_1738-823insACTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCTC ACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCGCTCACA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402254	C C	CACTCACA others(185): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCT CACACCCGGCCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	167	0.0060	192	c.173 others(209): Show c.1738-824_1738-823insACTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGACCCGCTCACACCCGGCCCCCGCTCACCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCTC ACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCGCTCACA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLCXD1_chrX_276381_308356	297960	T T	TCACATGG others(185): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCACATG GGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0104 a0001c0003t0057g0104	1	166	0.0060	192	c.734 others(209): Show c.734-1104_734-1103insCCATTATTCTGTCTATCACATGGGGATT AGGACGTGGACATCTTTGGGGACATTATTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGCCATTATTCTGTCTCCCACATGGGGATTAGGACGT GGACATCTTTGGGG		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	166193	T T	TGCTCTGA others(185): Show TGCTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCA CAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGTGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0018 a0018	a0018c0076 a0018c0076	a0018c0076t0060 a0018c0076t0060	a0018c0076t0060g0191 a0018c0076t0060g0191	1	195	0.0051	192	c.347 others(211): Show c.3476+2652_3476+2653insTGGGGCGGGGCTCACACTAATGCTCT GACGGGGTGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACGCTCTGA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977276	C C	CACTCCCC others(185): Show CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0128 a0004c0027t0001g0128	1	292	0.0034	192	c.27 others(203): Show c.2701_*2702insACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACT		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1412		chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078181	A A	AGGGGGAG others(185): Show AGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAA GGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGAAG GGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	187	0.0053	192	c.-46 others(211): Show c.-46+49080_-46+49081insGGGGAGGGGGAGGGGGAGGGGAAGGG GGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGG GGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGGAGGGGGAGGGGGG		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(185): Show AAATATATATAATATATATTATATATATTTATATAAAATATATATAATAT ATATTATATATTATATATAAAATATATATAATATATATTATATATATTAT ATATAAAATATATATAAATAATATATATTATATATTATATATTATATAAT ATATAATATATAATATATATTATTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0033 a0001c0001t0013g0033	1	4	0.2500	192	c.-49 others(203): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTATATATATTTTATATATAAT ATATAATATATATTATATATATTTTATATAAATATATATAATATATATTA TATATATT		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4557		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(185): Show AAATATATGATAATATATTATATATATTTATATAAAATATATATAATATA TATTATATATTATATATAAAATATATATAAATATATATTATATATATTAT ATATAAAATATATATAAATAATATATATTATATATTATATATTATATAAT ATATAATATATAATATATATTATTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	4	0.2500	192	c.-49 others(203): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTTATATATATTTTATATATAA TATATAATATATATTATATATATTTTATATAAATATATATAATATATTAT CATATATT		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4557		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AATATATA others(185): Show AATATATATAATATATATTATATATATTTATATAAAATATATATAATATA TATTATATATTATATATAAAATATATATAAATATATATTATATATATTAT ATATAAAATATATATAAATAATATATATTATATATTATATATTATATAAT ATATAATATATAATATATATTATTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	4	0.2500	192	c.-49 others(203): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTTATATATATTTTATATATAA TATATAATATATATTATATATATTTTATATAAATATATATAATATATATT ATATATAT		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4557		chrX	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(185): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0006 a0022c0035t0006	a0022c0035t0006g0365 a0022c0035t0006g0365	1	366	0.0027	192	c.205 others(209): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
POTEH_chr22_15685026_15726631	15691981	G G	GATATATA others(185): Show GATATATATACACATGTATATATATGTATATACGTATATATATATGTATA TATATATACGTATATACATATATATACATGTGTATATATATATATATATA TACACACACATGTATATATATGTATATACGTATATATATGTATATATATA TATACGTATATACATATATATACATGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	2	0.5000	192	c.632 others(209): Show c.632+1275_632+1276insTATATACACATGTATATATATGTATATA CGTATATATATATGTATATATATATACGTATATACATATATATACATGTG TATATATATATATATATATACACACACATGTATATATATGTATATACGTA TATATATGTATATATATATATACGTATATACATATATATACATGTGTGTG TATATATATATATA		POTEH	ENSG00000198062.16	transcript	ENST00000343518.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(185): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18906.hp2 NA18945.hp1 HG03942.hp2 NA18906.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022	a0001c0001t0003g0174 a0001c0001t0005g0173 a0001c0001t0022g0348 a0001c0001t0003g0174 a0001c0001t0005g0173 a0001c0001t0022g0348	3	148	0.0203	192	c.847 others(207): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGAC		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10						chr12	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(185): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCTGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	146	0.0068	192	c.847 others(207): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCAGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGAC		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10						chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81642686	T T	TTATATAC others(185): Show TTATATACATACATGTATGTATATATTATATACATACATGTATGTATATA TTATATACATACATGTATGTATATATTATATACATAATGTATGTATATAT TATATACATAATGTATGTATATAATATATACATAATGTATGTATATAATA TATACATAATGTATGTATATATTATATACATACATGTATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	163	0.0061	192	c.303 others(211): Show c.303+34104_303+34105insTTATATACATGTATGTATATAATATA TACATACATTATGTATATATTATATACATACATTATGTATATATTATATA CATACATTATGTATATAATATATACATACATTATGTATATAATATATACA TACATGTATGTATATAATATATACATACATGTATGTATATAATATATACA TACATGTATGTATATA		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945128	T T	TAACATGT others(185): Show TAACATGTTATATATAACTATATATAACATGTTATATATAACTATATATA ACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC ATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG01243.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0125 a0001c0001t0022g0117 a0001c0001t0003g0125 a0001c0001t0022g0117	2	189	0.0106	192	c.400 others(211): Show c.400-16608_400-16607insAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACATATATG		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3						chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150198134	C C	CGGCTTTG others(185): Show CGGCTTTGTGTGCCCCTGCCTGCCACAGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGCCCTTCATGGTGGAGGAGGGCCTGGATGCCCGGCTT TGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03453.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG03453.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0001t0001 a0001c0001t0010 a0001c0001t0022	a0001c0001t0001g0096 a0001c0001t0001g0301 a0001c0001t0010g0021 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0301 a0001c0001t0010g0021 a0001c0001t0010g0022 a0001c0001t0022g0025	5	310	0.0161	192	c.307 others(211): Show c.307-16591_307-16590insTGCCACAGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGCCCTTCATGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCTGGC TTTGTGTGCCCCTGCC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3287392	T T	TTTACCGG others(185): Show TTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCATCCAGGATTGCAC TTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTA CCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCATTTACC GGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01109.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0009 a0002c0003t0051 a0001c0012t0009 a0002c0003t0051	a0001c0012t0009g0113 a0001c0012t0009g0193 a0002c0003t0051g0079 a0001c0012t0009g0113 a0001c0012t0009g0193 a0002c0003t0051g0079	3	199	0.0151	192	c.438 others(211): Show c.438+43277_438+43278insCTGCCACGTGGGCATCCAGGATTGCA CTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTT ACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCATTTAC CGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCACTTACCG GGGCTGGAGCCGCCCC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3428175	A A	ACTGCAGG others(185): Show ACTGCAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCGC TGCAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCACTG CAGGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCACTGCA GGAGACCCACCAGGACCCCGAGCTAGGGTGCAGCCCGGCCGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0139 a0001c0002t0084g0139	1	169	0.0059	192	c.328 others(211): Show c.3284+1997_3284+1998insGCTGCAGGAGACCCACCAGGACCCCG AGCTAGGGTGCAGCCCGGCCGCACTGCAGGAGACCCACCAGGACCCCGAG CTAGGGTGCAGCCCGGCCGCACTGCAGGAGACCCACCAGGACCCCGAGCT AGGGTGCAGCCCGGCCGCGCTGCAGGAGACCCACCAGGACCCCGAGCTAG GGTGCAGCCCGGCCGC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151854986	C C	CCACACAC others(185): Show CCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCC ACACACACCACCCTCCACACACACCATCCTCCACACACACCACCCTCCAC ACACACCATGCTCCACACACACCGCCCTCCACACACACCACCCTCCACAC ACACCATGCTCCACACACACCGCCCTCCACACACACCACCCTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	238	0.0042	192	c.114 others(211): Show c.114+21520_114+21521insTAGGGTGGTGTGTGTGGAGGGCGGTG TGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTG TGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTG GAGGGCGGTGTGTGTG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCTGG others(185): Show CCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	263	0.0038	192	c.335 others(211): Show c.335-28387_335-28386insTGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCG AGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCC GGTGGGCGAGGACCTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51614918	T T	TCTTTGAA others(185): Show TCTTTGAATATATCCATCTTTGAATATATTCAACTTTGAATATATCCATC TTTGAATATATTCAACTTTGAATATATCCATCTTTGAATATATTCAACTT TGAATATATCCATCTTTGAATATATTCAACTTTGAATATATCCATCTTTG AATATATTCAACTTTGAATATATCCATCTTTGAATATATTCAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	36	0.0278	192	c.592 others(213): Show c.592+147129_592+147320dupATCTTTGAATATATTCAACTTTGA ATATATCCATCTTTGAATATATTCAACTTTGAATATATCCATCTTTGAAT ATATTCAACTTTGAATATATCCATCTTTGAATATATTCAACTTTGAATAT ATCCATCTTTGAATATATTCAACTTTGAATATATCCATCTTTGAATATAT TCAACTTTGAATATATCC		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161436014	G G	GCAGAGAG others(185): Show GCAGAGAGCAGGGGGCGGGATGAGAGGGACAGAGAGGAGGGGGCAAGATG GGAGGGACAGAGGGCAGGGGCCAGGATGGCATGGCAGAGGGGAGGGGGCG GGGTAGGAGGGCAGAGAGGAGGAGGCCGGATGGGAAGTACAGAGAGGAAG GGGCGGGATGGGAGCACAGAGAGGAGGGGGAGGGATGGGAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03688.hp2 HG03704.hp1 HG01884.hp2 HG03688.hp2 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0028 a0003c0005t0001g0026 a0001c0001t0001g0007 a0001c0001t0001g0028 a0003c0005t0001g0026	3	14	0.2143	192	c.108 others(213): Show c.1084-49138_1084-49137insTCCTCCCATCCCTCCCCCTCCTCT CTGTGCTCCCATCCCGCCCCTTCCTCTCTGTACTTCCCATCCGGCCTCCT CCTCTCTGCCCTCCTACCCCGCCCCCTCCCCTCTGCCATGCCATCCTGGC CCCTGCCCTCTGTCCCTCCCATCTTGCCCCCTCCTCTCTGTCCCTCTCAT CCCGCCCCCTGCTCTCTG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161436014	G G	GCAGAGAG others(185): Show GCAGAGAGCAGGGGGCGGGATGAGAGGGACAGAGAGGAGGGGGCAAGATG GGAGGGACAGAGGGCAGGGGCCAGGATGGCATGGCAGAGGGGAGGGGGCG GGGTAGGAGGGCAGAGAGGAGGAGGCCGGATGGGAAGTACAGAGAGGAAG GGGCGGGATGGGAGGACAGAGAGGAGGGGGAGGGATGGGAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0024 a0001c0003t0001g0032 a0001c0001t0001g0024 a0001c0003t0001g0032	2	13	0.1538	192	c.108 others(213): Show c.1084-49138_1084-49137insTCCTCCCATCCCTCCCCCTCCTCT CTGTCCTCCCATCCCGCCCCTTCCTCTCTGTACTTCCCATCCGGCCTCCT CCTCTCTGCCCTCCTACCCCGCCCCCTCCCCTCTGCCATGCCATCCTGGC CCCTGCCCTCTGTCCCTCCCATCTTGCCCCCTCCTCTCTGTCCCTCTCAT CCCGCCCCCTGCTCTCTG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161436014	G G	GCAGAGAG others(185): Show GCAGAGAGGAGGGGGAGGGATGGGAGGGCAGAGAGCAGGGGGCGGGATGA GAGGGACAGAGAGGAGGGGGCAAGATGGGAGGGACAGAGGGCAGGGGCCA GGATGGCATGGCAGAGGGGAGGGGGCGGGGTAGGAGGGCAGAGAGGAGGA GGCCGGATGGGAAGTACAGAGAGGAAGGGGCGGGATGGGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01361.hp2 others(13): Show HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 NA18522.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0007 a0004c0009 a0005c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0004t0001 a0001c0008t0009 a0002c0002t0001 a0002c0002t0003 a0002c0007t0012 a0004c0009t0010 a0005c0011t0011 a0006c0010t0004	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0030 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0002g0022 a0001c0001t0003g0029 a0001c0001t0004g0002 a0001c0001t0008g0020 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0008t0009g0014 a0002c0002t0001g0016 a0002c0002t0003g0019 a0002c0007t0012g0018 a0004c0009t0010g0031 a0005c0011t0011g0009 a0006c0010t0004g0013	16	27	0.5926	192	c.108 others(213): Show c.1084-49138_1084-49137insTCCTCCCATCCCGCCCCTTCCTCT CTGTACTTCCCATCCGGCCTCCTCCTCTCTGCCCTCCTACCCCGCCCCCT CCCCTCTGCCATGCCATCCTGGCCCCTGCCCTCTGTCCCTCCCATCTTGC CCCCTCCTCTCTGTCCCTCTCATCCCGCCCCCTGCTCTCTGCCCTCCCAT CCCTCCCCCTCCTCTCTG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11						chr6	TogoVar
PRPF31_chr19_54110754_54136713	54134108	C C	CTCCACCT others(185): Show CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	161	0.0062	192	c.26 others(203): Show c.2676_*2677insTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2396		chr19	TogoVar
PXDN_chr2_1626887_1749515	1710808	A A	ACTCCACC others(185): Show ACTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACT CCACCAGCACCCACTCTCCACCAGCACCTGCTCCACCAGCACCCACTCTC CACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTCCAC CAGCACCCACTCTCCACCAGCACCTGCTCCACCAGCACCCACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	235	0.0043	192	c.201 others(211): Show c.201-17675_201-17674insAGTGGGTGCTGGTGGAGCAGGTGCTG GTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTGGGTGCTGGTG GAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCAGGTGCTGGTGG AGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGA GTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXDN_chr2_1626887_1749515	1720095	C C	CAGAGAGA others(185): Show CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGGGATGCAGAGATGCAGAGAGAGAGAGGGA GGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGA GGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	158	0.0063	192	c.200 others(211): Show c.200+24160_200+24161insCTCTGCATTCTTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCTCTGCATCCCCCT CCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCT		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692833	A A	AGTCAGTT others(185): Show AGTCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA GCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCACCCTTGC CAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTGAGCGCCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01070.hp1 others(7): Show HG00544.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 others(7): Show a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0159 a0001c0003t0008g0145	10	348	0.0287	192	c.236 others(209): Show c.236+2458_236+2459insTCAGTTAGTTAGTGAGCGCCCTTAGCCA GTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAG TTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGT TAGTTAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTT AGTGAGCGCCCTTG		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB20_chr13_110518066_110566722	110530291	G G	GCCCCGGG others(185): Show GCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGC CCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCC CGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGTCCCG GGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(92): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0002c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0040 others(87): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0322 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0385 a0001c0001t0003g0246 a0001c0002t0001g0006 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0368 a0001c0002t0003g0366 a0001c0002t0007g0090 a0001c0002t0007g0103 a0001c0002t0007g0104 a0001c0002t0007g0105 a0001c0002t0011g0397 a0001c0002t0012g0225 a0001c0003t0001g0023 a0001c0003t0001g0037 a0001c0003t0001g0048 a0001c0003t0001g0075 a0001c0003t0001g0092 a0001c0003t0001g0113 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0218 a0001c0003t0001g0221 a0001c0003t0001g0231 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0324 a0001c0003t0001g0358 a0001c0003t0001g0364 a0001c0003t0001g0374 a0001c0006t0001g0213 a0001c0010t0001g0151 a0002c0004t0003g0262 a0002c0004t0003g0274 a0002c0004t0003g0382	95	422	0.2251	192	c.173 others(209): Show c.173-6095_173-6094insTCCTGTGTCTGCGTAGAGGTGGGGCGGG TGGGACCTGCCTCCCCGGGACCCTGTGTCTGCGTAGAGGTGGGGCGGGTG GGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGG ACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGAC CTGCCTCCCCGGGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530292	C C	CCCCGGGG others(185): Show CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	423	0.0024	192	c.173 others(209): Show c.173-6096_173-6095insACCCTGTGTCTGCGTAGAGGTGGGGCGG GTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGT GGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGG GACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGA CCTGCCTCCCCGGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530387	G G	GTCCCGGG others(185): Show GTCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGT CCCGGGGAGGCAGGTCCCACCTGCCCCACCTCTATGCAGACACAGGACCC CGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGTCCCG GGGAGGCAGGTCCCACCTGCCCCACCTCTATGCAGACACAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp2 HG02647.hp1 HG01074.hp1 HG02055.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0001g0063 a0001c0002t0003g0099 a0001c0003t0001g0098 a0001c0002t0001g0063 a0001c0002t0003g0099 a0001c0003t0001g0098	3	421	0.0071	192	c.173 others(209): Show c.173-6191_173-6190insTCCTGTGTCTGCATAGAGGTGGGGCAGG TGGGACCTGCCTCCCCGGGACCCTGTGTCTGCGTAGAGGTGGGGCGGGTG GGACCTGCCTCCCCGGGGTCCTGTGTCTGCATAGAGGTGGGGCAGGTGGG ACCTGCCTCCCCGGGACCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGAC CTGCCTCCCCGGGA		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB20_chr13_110518066_110566722	110530401	G G	GGTCCCAC others(185): Show GGTCCCACCCGCCCCACCTCTACGCAGACACAGGGTCCCGGGGAGGCAGG TCCCACCCGCCCCACCTCTACGCAGACACAGGACCCCGGGGAGGCAGGTC CCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAGGTCCC ACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0365 a0001c0002t0001g0365	1	424	0.0024	192	c.173 others(209): Show c.173-6205_173-6204insGTGCCTCCCCGGGGCCCTGTGTCTGCGT AGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAG AGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGTCCTGTGTCTGCGTAGAG GTGGGGCGGGTGGGACCTGCCTCCCCGGGACCCTGTGTCTGCGTAGAGGT GGGGCGGGTGGGAC		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(185): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATACACACATATGTGTGTATATACGTATATATACACACATGTGTGTATA TACGGATATACACACATATGTGTATATATACGTATATACACACATATGTG TGTATATACGTATATACACACATATGTGTATATCCGTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	232	0.0043	192	c.468 others(209): Show c.468-4219_468-4218insATATATACGGATATACACATATGTGTGT ATATACGTATATACACACATATGTGTGTATATACGTATATATACACATAT GTGTGTATATCCGTATATACACACATGTGTGTATATATACGTATATACAC ACATATGTGTGTATACGTATATATACACACATATGTGTGTATACGTATAT ATACACACATATGT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB3C_chr5_58578075_58864394	58598197	A A	ATAAGTAT others(185): Show ATAAGTATATGATAACATGTAATACATTATATGTAAGTATATGATAACAT GTAATACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAA GTATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAA TACATTATATGTAAGTATATGATAACATGTAATACATTATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(11): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01071.hp2 HG01123.hp2 HG01192.hp1 HG01516.hp1 HG02027.hp1 HG02074.hp1 HG03669.hp1 NA18968.hp2 NA19058.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0030 a0001c0001t0039 a0001c0001t0055 a0001c0001t0069 a0001c0001t0077	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 others(11): Show a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0204 a0001c0001t0004g0120 a0001c0001t0004g0205 a0001c0001t0005g0189 a0001c0001t0012g0014 a0001c0001t0012g0203 a0001c0001t0030g0213 a0001c0001t0039g0202 a0001c0001t0055g0192 a0001c0001t0069g0197 a0001c0001t0077g0215	14	176	0.0795	192	c.24+ others(209): Show c.24+14973_24+14974insTGATAACATGTAATACATTATATGTAAG TATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAAT ACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATA TGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAATACAT TATATGTAAGTATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58598229	A A	ATAAGTAT others(185): Show ATAAGTATATGATAACATGTAATACATTATATGTAAGTATATGATAACAT GTAATACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAA GTATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAA TACATTATATGTAAGTATATGATAACATGTAATACATTATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18984.hp2 NA18999.hp1 HG02109.hp2 NA18984.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031	a0001c0001t0002g0206 a0001c0001t0003g0207 a0001c0001t0031g0201 a0001c0001t0002g0206 a0001c0001t0003g0207 a0001c0001t0031g0201	3	210	0.0143	192	c.24+ others(209): Show c.24+15011_24+15012insCATGTAATACATTATATGTAAGTATATG ATAACATGTAATACATTATATGTAAGTATATGATAACATGTAATACATTA TATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATATGATAA CATGTAATACATTATATGTAAGTATATGATAACATGTAATACATTATATG TAAGTATATGATAA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(185): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TACATATATATGCATATATATATGCATACATATATATGCATACATATATG CATGCATATATATATGCATACATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	286	0.0035	192	c.351 others(209): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATATGCATACATATAT GCATGCATATATAT		RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGEF1A_chr10_43189535_43272065	43210843	A A	AGAGCAGC others(185): Show AGAGCAGCAGCTCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAGTAGC CCCTCTGACTCCTTGGAGCAGCAGCTCCTTGCAGGGAGTGGGGGACAGGC TTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCCCCTTGCAGGG AGTGGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG02109.hp1 others(7): Show HG01106.hp1 HG01192.hp1 HG02109.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0001t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0005g0253 a0001c0005t0001g0261	10	327	0.0306	192	c.-6- others(207): Show c.-6-4722_-6-4721insCAAGGAGTCAGAGGGGCTACTGGGTGCAAG CCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGG CTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAGGAGCTGCTGCTCCA AGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAG GAGCTGCTGCTC		RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12						chr10	TogoVar
RASGEF1A_chr10_43189535_43272065	43210949	G G	GCAGCAGC others(185): Show GCAGCAGCCCCTCTGACTCCTTGGAGCAGCAGCTCCTTGCAGGGAGTGGG GGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCCCC TTGCAGGGAGTGGGGGACAGGCTTGCACGCAGCAGCCCCTCTGACTCCTT GGAGCAGCAGCTCCTTGCAGGGAGTGGGGGACAGGCTTGCACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(82): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01952.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0153 a0001c0001t0002g0011 a0001c0001t0002g0047 others(79): Show a0001c0001t0001g0153 a0001c0001t0002g0011 a0001c0001t0002g0047 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0296 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0075 a0001c0001t0003g0133 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0311 a0001c0001t0007g0024 a0001c0001t0009g0102 a0001c0001t0018g0312 a0001c0003t0001g0132 a0001c0004t0003g0144	85	212	0.4009	192	c.-6- others(207): Show c.-6-4828_-6-4827insGGTGCAAGCCTGTCCCCCACTCCCTGCAAG GAGCTGCTGCTCCAAGGAGTCAGAGGGGCTGCTGCGTGCAAGCCTGTCCC CCACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGG TGCAAGCCTGTCCCCCACTCCCTGCAAGGAGCTGCTGCTCCAAGGAGTCA GAGGGGCTGCTG		RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12						chr10	TogoVar
RFLNA_chr12_124290093_124321024	124320628	A A	AGGTGGGA others(185): Show AGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTCTTT GGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCT TTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCT CTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0020 a0001c0002t0030 a0001c0003t0014 a0001c0004t0002 a0001c0007t0002 a0002c0005t0002 a0002c0005t0005	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 others(261): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0004g0281 a0001c0001t0004g0306 a0001c0001t0004g0360 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0056 a0001c0001t0005g0058 a0001c0001t0005g0094 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0125 a0001c0001t0005g0129 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0200 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0258 a0001c0001t0006g0172 a0001c0001t0008g0110 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0134 a0001c0001t0008g0143 a0001c0001t0008g0147 a0001c0001t0008g0167 a0001c0001t0008g0197 a0001c0001t0008g0227 a0001c0001t0012g0357 a0001c0001t0015g0184 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0015g0337 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0025g0280 a0001c0001t0033g0032 a0001c0001t0034g0160 a0001c0001t0037g0174 a0001c0002t0002g0020 a0001c0002t0002g0027 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0152 a0001c0002t0002g0241 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0166 a0001c0002t0003g0171 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0179 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0004g0043 a0001c0002t0004g0127 a0001c0002t0004g0155 a0001c0002t0004g0163 a0001c0002t0004g0183 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0203 a0001c0002t0004g0237 a0001c0002t0004g0252 a0001c0002t0004g0253 a0001c0002t0004g0259 a0001c0002t0004g0262 a0001c0002t0004g0263 a0001c0002t0004g0264 a0001c0002t0004g0272 a0001c0002t0004g0274 a0001c0002t0004g0305 a0001c0002t0004g0319 a0001c0002t0016g0135 a0001c0002t0016g0173 a0001c0002t0016g0229 a0001c0002t0016g0230 a0001c0002t0020g0238 a0001c0002t0020g0255 a0001c0002t0030g0011 a0001c0003t0014g0069 a0001c0003t0014g0072 a0001c0003t0014g0153 a0001c0003t0014g0168 a0001c0003t0014g0185 a0001c0004t0002g0045 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0048 a0001c0004t0002g0061 a0001c0004t0002g0067 a0001c0007t0002g0098 a0002c0005t0002g0023 a0002c0005t0005g0054 a0002c0005t0005g0062 a0002c0005t0005g0064 a0002c0005t0005g0065	269	292	0.9212	192	c.61 others(203): Show c.6103_*6104insGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGG ATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTG AGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGG TAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTT TGGGGGTT		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4605		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320628	A A	AGGTGGGA others(185): Show AGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGGATGACCTCTTTCTTT GGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCT TTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCT CTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0018 a0003c0006t0018	a0003c0006t0018g0026 a0003c0006t0018g0033 a0003c0006t0018g0035 a0003c0006t0018g0026 a0003c0006t0018g0033 a0003c0006t0018g0035	3	26	0.1154	192	c.61 others(203): Show c.6103_*6104insGGTGGGATGACCTCTTTCTTTGGGGGTGGGTGGG ATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTG AGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGG TAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCTT TGGGGGTT		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4605		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320712	G G	GAGATGAC others(185): Show GAGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGG GTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTGAGATGACCTCTTTCT TTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCT CTTTCTTTGGGGGTAGGTGGGATGACCTCTTTGGGGGTAGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0035 a0004c0008t0035	a0004c0008t0035g0169 a0004c0008t0035g0169	1	386	0.0026	192	c.61 others(203): Show c.6187_*6188insAGATGACCTCTTTCTTTGGGGGTTGGTGGGATGA CCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTG AGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGG TAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCTCTTTGGG GGTAGGTA		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4689		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16459755	T T	TAGAAAAA others(185): Show TAGAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0141 a0002c0003t0006g0141	1	266	0.0038	192	c.146 others(211): Show c.146-25719_146-25718insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTCT		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	2/9						chr3	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(185): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0024 a0003c0003t0002g0024	1	10	0.1000	192	c.127 others(209): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTT		RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(185): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0010	1	347	0.0029	192	c.-76 others(201): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(185): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG01258.hp2 others(5): Show HG00609.hp2 HG01257.hp1 HG01258.hp2 HG02074.hp1 HG02300.hp1 NA18906.hp1 NA18945.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0033 a0001c0001t0049	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0004g0050 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0004g0050 a0001c0001t0006g0009 a0001c0001t0006g0172 a0001c0001t0033g0002 a0001c0001t0049g0055	8	36	0.2222	192	c.-76 others(201): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881909	T T	TAGATACA others(185): Show TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATAGAGATACATCTATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0326 a0002c0003t0001g0326	1	424	0.0024	192	c.21 others(203): Show c.2183_*2184insAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATAGAGATACATCTATATATAGATACAT CTATATAG		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1989		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(185): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGCGGGGCC CGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCC CCGGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGC CGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	88	0.0114	192	c.-36 others(207): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTC GGCTGCGCCCGAGTCCCCGGGGGGCCCGTCCCCACCGAGGAAACGGACGG CGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCCGC CGCCCCCGCGGC		RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(185): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(40): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG03239.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1	a0004 a0008 a0010 others(10): Show a0004 a0008 a0010 a0012 a0027 a0033 a0048 a0062 a0065 a0133 a0139 a0140 a0141	a0004c0004 a0004c0037 a0004c0051 others(16): Show a0004c0004 a0004c0037 a0004c0051 a0008c0134 a0010c0011 a0010c0119 a0010c0131 a0012c0058 a0027c0049 a0027c0132 a0033c0024 a0048c0114 a0048c0130 a0062c0095 a0065c0077 a0133c0103 a0139c0208 a0140c0089 a0141c0120	a0004c0004t0002 a0004c0004t0014 a0004c0037t0002 others(21): Show a0004c0004t0002 a0004c0004t0014 a0004c0037t0002 a0004c0037t0005 a0004c0051t0002 a0008c0134t0002 a0010c0011t0002 a0010c0011t0005 a0010c0119t0002 a0010c0131t0005 a0012c0058t0002 a0027c0049t0001 a0027c0049t0020 a0027c0132t0001 a0033c0024t0002 a0033c0024t0005 a0048c0114t0002 a0048c0130t0002 a0062c0095t0002 a0065c0077t0002 a0133c0103t0002 a0139c0208t0002 a0140c0089t0002 a0141c0120t0022	a0004c0004t0002g0016 a0004c0004t0002g0062 a0004c0004t0002g0067 others(40): Show a0004c0004t0002g0016 a0004c0004t0002g0062 a0004c0004t0002g0067 a0004c0004t0002g0080 a0004c0004t0002g0116 a0004c0004t0002g0129 a0004c0004t0002g0151 a0004c0004t0002g0161 a0004c0004t0002g0179 a0004c0004t0002g0193 a0004c0004t0002g0200 a0004c0004t0002g0226 a0004c0004t0014g0176 a0004c0004t0014g0182 a0004c0037t0002g0169 a0004c0037t0005g0300 a0004c0051t0002g0168 a0004c0051t0002g0205 a0008c0134t0002g0117 a0010c0011t0002g0120 a0010c0011t0002g0150 a0010c0011t0002g0156 a0010c0011t0002g0157 a0010c0011t0002g0234 a0010c0011t0005g0271 a0010c0119t0002g0090 a0010c0131t0005g0290 a0012c0058t0002g0131 a0012c0058t0002g0202 a0027c0049t0001g0103 a0027c0049t0020g0185 a0027c0132t0001g0192 a0033c0024t0002g0209 a0033c0024t0005g0279 a0033c0024t0005g0280 a0048c0114t0002g0097 a0048c0130t0002g0128 a0062c0095t0002g0054 a0065c0077t0002g0221 a0133c0103t0002g0118 a0139c0208t0002g0138 a0140c0089t0002g0043 a0141c0120t0022g0207	43	348	0.1236	192	c.402 others(201): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGG ACTAAA	p.Lys others(207): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610137	G G	GCACCACC others(185): Show GCACCACCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGC ACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCAC CCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG00738.hp2	a0060 a0060	a0060c0067 a0060c0067	a0060c0067t0005 a0060c0067t0005	a0060c0067t0005g0399 a0060c0067t0005g0399	1	399	0.0025	192	c.396 others(201): Show c.3960_3961insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAG AGGCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GTGGTG	p.Val others(207): Show p.Val1320_Gln1321insGluLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuG lnGluGluAlaValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluValVal	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4225/8014	3960/7203	1320/2400			chr8	TogoVar

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