Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	242421	A A	ACCTTCCT others(45): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02738.hp2 HG02071.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0007 a0002c0005t0023 a0001c0002t0007 a0002c0005t0023	a0001c0002t0007g0112 a0002c0005t0023g0125 a0001c0002t0007g0112 a0002c0005t0023g0125	2	133	0.0150	52	c.613 others(69): Show c.613+4689_613+4690insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242438	A A	ACCTTCCT others(45): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0035 a0002c0005t0005g0035	1	133	0.0075	52	c.613 others(69): Show c.613+4672_613+4673insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242455	A A	ACCTTCCT others(45): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	133	0.0075	52	c.613 others(69): Show c.613+4655_613+4656insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242678	A A	ACCTTCCT others(45): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0082 a0001c0001t0016g0082	1	133	0.0075	52	c.613 others(69): Show c.613+4432_613+4433insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242867	C C	CCCTTCCT others(45): Show CCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGA CTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	52	c.613 others(69): Show c.613+4243_613+4244insTAGTCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287235	T T	TCTCTCCA others(45): Show TCTCTCCACCGTCAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCAC ACC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18999.hp2 NA18947.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0025 a0001c0001t0014 a0001c0001t0025	a0001c0001t0014g0023 a0001c0001t0025g0076 a0001c0001t0014g0023 a0001c0001t0025g0076	2	133	0.0150	52	c.352 others(69): Show c.352-5382_352-5381insGGTGTGAGGTCTGACGGTGGAGAGAGAG CGTGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287925	T T	TCCCTCTC others(45): Show TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	52	c.352 others(69): Show c.352-6072_352-6071insTGTGAGGTCTGACGGTGGAGAGAGGGTG CGAGGTCTGACGGTGGAGAGAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288003	A A	ACACCCTC others(45): Show ACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	133	0.0075	52	c.352 others(69): Show c.352-6150_352-6149insCGAGGTCTGACGGTGGAGAGAGGGTGCG AGGTCTGACGGTGGAGAGAGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288113	C C	CCTCTCTC others(45): Show CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	52	c.352 others(69): Show c.352-6260_352-6259insCGTGCGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288539	T T	TCTCTCCA others(45): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCAC TCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	133	0.0075	52	c.352 others(69): Show c.352-6686_352-6685insGGAGTGAGGTCTGACGGTGGAGAGAGAG GGAGTGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288539	T T	TCTCTCTC others(45): Show TCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCAC ACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	52	c.352 others(69): Show c.352-6686_352-6685insGGTGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(45): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp2 NA18946.hp1 NA19077.hp2 HG02602.hp2 NA18946.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0185 a0001c0002t0184 a0002c0004t0186 a0001c0001t0185 a0001c0002t0184 a0002c0004t0186	a0001c0001t0185g0181 a0001c0002t0184g0177 a0002c0004t0186g0158 a0001c0001t0185g0181 a0001c0002t0184g0177 a0002c0004t0186g0158	3	266	0.0113	52	c.-24 others(61): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03017.hp1 NA19078.hp1 HG00099.hp1 HG03017.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0005g0036 a0001c0001t0008g0001 a0001c0001t0002g0001 a0001c0001t0005g0036 a0001c0001t0008g0001	3	446	0.0067	52	c.-45 others(63): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	446	0.0022	52	c.-45 others(63): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL4_chr15_66493015_66509855	66509835	A A	ATATATTT others(45): Show ATATATTTCATGAATGAGAAGCTGTAATATCTATAATTATGTGTGTGTGT GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG02602.hp1 HG00639.hp1 HG01978.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	3	428	0.0070	52	c.-50 others(63): Show c.-5046_-5045insGCCACACACACACATAATTATAGATATTACAGCT TCTCATTCATGAAATATA	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		4981		chr15	TogoVar
RPL5_chr1_92827040_92846924	92846825	A A	ATACACAC others(45): Show ATACACACGTATATATATATATATATACACACGTATATATATATATACAC ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	331	0.0030	52	c.49 others(63): Show c.4960_*4961insTACACACGTATATATATATATATATACACACGTA TATATATATATACACACG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4902		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATATATA others(45): Show TATATATACACACACGTATATATATATATACACACACGTATATATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	331	0.0030	52	c.49 others(63): Show c.4983_*4984insATATATACACACACGTATATATATATATACACAC ACGTATATATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(45): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18966.hp1 HG02071.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0129 a0001c0001t0001g0130	2	318	0.0063	52	c.790 others(71): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(45): Show GTGTGTATATGTATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp1 NA18747.hp1 HG01081.hp2 HG02004.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113	3	318	0.0094	52	c.790 others(71): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATACATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(45): Show GTGTGTATGTATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	318	0.0031	52	c.790 others(71): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATACATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPTOR_chr17_80539838_80971368	80565625	C C	CGGAGGGA others(45): Show CGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAGCCCCAGGGCTGGGA GGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(98): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(65): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0055 a0001c0058 a0001c0060 a0001c0065 a0001c0066 a0001c0067 a0001c0070 a0001c0072 a0001c0074 a0001c0075 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0001c0083 a0001c0084 a0001c0085 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0002c0063 a0003c0069 a0005c0092	a0001c0001t0015 a0001c0002t0008 a0001c0002t0015 others(92): Show a0001c0001t0015 a0001c0002t0008 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0003t0038 a0001c0004t0001 a0001c0004t0014 a0001c0004t0023 a0001c0004t0035 a0001c0005t0026 a0001c0005t0067 a0001c0006t0022 a0001c0007t0069 a0001c0008t0021 a0001c0008t0027 a0001c0008t0036 a0001c0008t0054 a0001c0009t0001 a0001c0009t0006 a0001c0009t0012 a0001c0009t0028 a0001c0011t0024 a0001c0011t0047 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0013t0021 a0001c0015t0008 a0001c0015t0046 a0001c0017t0015 a0001c0018t0016 a0001c0018t0017 a0001c0019t0003 a0001c0019t0042 a0001c0020t0048 a0001c0022t0001 a0001c0022t0022 a0001c0023t0008 a0001c0024t0003 a0001c0024t0037 a0001c0026t0043 a0001c0028t0006 a0001c0029t0025 a0001c0030t0003 a0001c0031t0011 a0001c0031t0027 a0001c0033t0023 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0044t0045 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0050t0007 a0001c0051t0060 a0001c0052t0003 a0001c0053t0007 a0001c0055t0049 a0001c0058t0004 a0001c0060t0001 a0001c0065t0007 a0001c0066t0058 a0001c0067t0068 a0001c0070t0020 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001 a0002c0063t0020 a0003c0069t0044 a0005c0092t0012	a0001c0001t0015g0085 a0001c0002t0008g0131 a0001c0002t0015g0086 others(98): Show a0001c0001t0015g0085 a0001c0002t0008g0131 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0001g0154 a0001c0003t0004g0119 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0001g0152 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0006t0022g0090 a0001c0007t0069g0128 a0001c0008t0021g0091 a0001c0008t0027g0143 a0001c0008t0036g0002 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0009t0006g0142 a0001c0009t0012g0103 a0001c0009t0028g0113 a0001c0011t0024g0147 a0001c0011t0047g0076 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0013t0021g0093 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0018t0016g0120 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0026t0043g0096 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0031t0011g0073 a0001c0031t0027g0173 a0001c0033t0023g0075 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0044t0045g0080 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0078 a0001c0050t0007g0148 a0001c0051t0060g0116 a0001c0052t0003g0149 a0001c0053t0007g0122 a0001c0055t0049g0083 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0065t0007g0101 a0001c0066t0058g0126 a0001c0067t0068g0110 a0001c0070t0020g0003 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157 a0002c0063t0020g0001 a0003c0069t0044g0099 a0005c0092t0012g0163	101	196	0.5153	52	c.162 others(71): Show c.162+19885_162+19886insTGGAGGGAGGCGTGCACTGCTGTGGA GGGGTTAGAGCCCCAGGGCTGGGAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80565663	C C	CCAGGGCT others(45): Show CCAGGGCTGGGAGGTGGAGGGAGGCGTGCACTGCTGTGGAGGGGTTAGAG CCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	52	c.162 others(71): Show c.162+19885_162+19886insTGGAGGGAGGCGTGCACTGCTGTGGA GGGGTTAGAGCCTCAGGGCTGGGAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80681600	C C	CCTTCATG others(45): Show CCTTCATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTA CAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG06807.hp2 HG02145.hp1 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0046 a0001c0050 a0001c0011 a0001c0046 a0001c0050	a0001c0011t0024 a0001c0046t0024 a0001c0050t0007 a0001c0011t0024 a0001c0046t0024 a0001c0050t0007	a0001c0011t0024g0147 a0001c0046t0024g0164 a0001c0050t0007g0148 a0001c0011t0024g0147 a0001c0046t0024g0164 a0001c0050t0007g0148	3	196	0.0153	52	c.349 others(71): Show c.349-26190_349-26189insGCTTCATGAGGTGTACGTCTCTTACA CCTTCATGAGGTGTACGTCTCTTACA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80887239	G G	GCTCGGGG others(45): Show GCTCGGGGGGTGCGCTGGCTCTGAGGGGGTGTGCTGACTCTGAGGGGTGC CAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0015 a0001c0006t0082g0015	1	196	0.0051	52	c.198 others(71): Show c.1983+2133_1983+2184dupAGGGGTGCCACCTCGGGGGGTGCGCT GGCTCTGAGGGGGTGTGCTGACTCTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRM1_chr11_4089799_4143932	4143593	T T	TTCTGTTT others(45): Show TTCTGTTTTCCTGCTTGAATGTTACCTTTTCCTAAACCACCCATGTTCCC ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0075 a0001c0003t0002g0075	1	368	0.0027	52	c.52 others(63): Show c.5210_*5211insTCTGTTTTCCTGCTTGAATGTTACCTTTTCCTAA ACCACCCATGTTCCCACC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding		4662		chr11	TogoVar
RSPH14_chr22_23054415_23146990	23126153	C C	CTGTGAGC others(45): Show CTGTGAGCATCTTTAATCTAAAAATACATGGCTAAAGGGGAAGAAAGGGA TCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	314	0.0032	52	c.421 others(69): Show c.421+7872_421+7873insGGATCCCTTTCTTCCCCTTTAGCCATGT ATTTTTAGATTAAAGATGCTCACA	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSRC1_chr3_158105089_158550730	158117881	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	276	0.0036	52	c.-2- others(67): Show c.-2-4191_-2-4190insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228876	C C	CACACATA others(45): Show CACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTGTATA TAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	276	0.0036	52	c.494 others(71): Show c.494+25634_494+25635insCATACGTGTATATGTGTATATAAACA CATACGTGTATATGTGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228963	T T	TACGTGTA others(45): Show TACGTGTATATGTGTGTATAAACACACACGTGTATATGTGTGTATAAACA CAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	276	0.0036	52	c.494 others(71): Show c.494+25745_494+25746insCGTGTATATGTGTGTATAAACACACA CGTGTATATGTGTGTATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228985	C C	CACACACG others(45): Show CACACACGTGTATATGTGTGTATAAACACACATACGTGTATATGTGTGTA TAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp1 HG01109.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0137 a0001c0001t0007g0126 a0001c0001t0007g0137	2	276	0.0073	52	c.494 others(71): Show c.494+25745_494+25746insCGTGTATATGTGTGTATAAACACACA TACGTGTATATGTGTGTATAAACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16722831	C C	CACACATA others(45): Show CACACATATATACATATACACACATATACATATATGTATATATACACACA TAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02129.hp1 others(4): Show HG02071.hp1 HG02071.hp2 HG02129.hp1 NA18998.hp1 NA19010.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0078 a0001c0002t0001g0146 a0001c0003t0001g0127 others(4): Show a0001c0002t0001g0078 a0001c0002t0001g0146 a0001c0003t0001g0127 a0001c0003t0001g0133 a0001c0003t0001g0155 a0001c0003t0001g0164 a0001c0003t0001g0165	7	190	0.0368	52	c.599 others(71): Show c.599-27677_599-27676insATATGTGTGTATATATACATATATGT ATATGTGTGTATATGTATATATGTGT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATATACA others(45): Show TATATACATATATGTATATATACACACATATACATATATGTATATATACA CAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 HG03453.hp1 others(2): Show HG01891.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0042 others(2): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050	a0001c0001t0013g0047 a0001c0001t0024g0150 a0001c0001t0042g0046 others(2): Show a0001c0001t0013g0047 a0001c0001t0024g0150 a0001c0001t0042g0046 a0001c0001t0049g0160 a0001c0001t0050g0161	5	190	0.0263	52	c.599 others(71): Show c.599-27752_599-27701dupGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16722869	T T	TATATATA others(45): Show TATATATACACACATATACATATATGCATATATACACACATATACATATA TGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp1 NA18964.hp1 HG02056.hp1 HG02523.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0001 a0001c0003t0001 a0002c0004t0003 a0001c0002t0001 a0001c0003t0001 a0002c0004t0003	a0001c0002t0001g0139 a0001c0003t0001g0145 a0002c0004t0003g0188 a0001c0002t0001g0139 a0001c0003t0001g0145 a0002c0004t0003g0188	3	190	0.0158	52	c.599 others(71): Show c.599-27715_599-27714insGCATATATGTATATGTGTGTATATAT GCATATATGTATATGTGTGTATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTF2_chr20_56463627_56524449	56520118	G G	GGAGATTT others(45): Show GGAGATTTCTAGCCAGCCTTTAATATTTTGCTAAGGCACCACTCTTCAAG GCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	388	0.0026	52	c.18 others(63): Show c.1853_*1854insGAGATTTCTAGCCAGCCTTTAATATTTTGCTAAG GCACCACTCTTCAAGGCT	RTF2	ENSG00000022277.13	transcript	ENST00000357348.10	protein_coding		670		chr20	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATAT others(45): Show ATATATATTATATCTATAATATATAATATATATATTATATCTATAATATA TAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	172	0.0058	52	c.242 others(69): Show c.242-3732_242-3731insATATATATTATAGATATAATATATATAT TATATATTATAGATATAATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241874882	G G	GGTCTCAG others(45): Show GGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAAT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02723.hp2 HG01109.hp2 HG02145.hp2 HG02723.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0022 a0005c0005t0005 a0005c0005t0022	a0005c0005t0005g0005 a0005c0005t0022g0005 a0005c0005t0005g0005 a0005c0005t0022g0005	3	365	0.0082	52	c.16 others(63): Show c.1608_*1609insGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCT AGGAGAAACCCCAATCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1060		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874941	A A	AGGGCCCA others(45): Show AGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG03195.hp2 HG02559.hp1 HG02630.hp1 HG03195.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0005 a0005c0005t0005g0005	3	365	0.0082	52	c.16 others(63): Show c.1667_*1668insGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAA ACCCCAATCCAGGGCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1119		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875040	G G	GGTCTCAG others(45): Show GGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAAT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0001 a0001c0010t0009g0001	1	365	0.0027	52	c.17 others(63): Show c.1766_*1767insGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCT AGGAGAAACCCCAATCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1218		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCAA others(45): Show GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(64): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18966.hp2 NA18970.hp1 NA18980.hp1 NA18985.hp1 NA18991.hp2 NA18995.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0015	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0010c0011 a0015c0016	a0001c0001t0002 a0001c0001t0025 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0025 a0002c0002t0001 a0003c0003t0003 a0003c0003t0014 a0003c0003t0023 a0003c0003t0033 a0010c0011t0003 a0015c0016t0003	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0025g0007 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0025g0007 a0002c0002t0001g0002 a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 a0003c0003t0003g0034 a0003c0003t0003g0041 a0003c0003t0014g0033 a0003c0003t0023g0001 a0003c0003t0033g0001 a0010c0011t0003g0001 a0015c0016t0003g0001	67	365	0.1836	52	c.18 others(63): Show c.1825_*1826insGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1277		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(45): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0002 a0002c0002t0036g0002	1	365	0.0027	52	c.48 others(63): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGCCCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTTN_chr18_69998031_70210687	70013369	C C	CTGTGTGT others(45): Show CTGTGTGTGTATGTATATATACATATGTGTGTGTGTGTGTGTGTCTGTGT GTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02451.hp1 others(11): Show HG01081.hp2 HG01109.hp1 HG02451.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0006 a0003c0004t0003 a0003c0004t0006	a0003c0004t0003g0002 a0003c0004t0003g0003 a0003c0004t0003g0006 others(11): Show a0003c0004t0003g0002 a0003c0004t0003g0003 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0012 a0003c0004t0003g0019 a0003c0004t0003g0020 a0003c0004t0003g0021 a0003c0004t0006g0013 a0003c0004t0006g0014 a0003c0004t0006g0015 a0003c0004t0006g0017	14	156	0.0897	52	c.642 others(71): Show c.6421+3986_6421+4037dupCACACACAGACACACACACACACACA CATATGTATATATACATACACACACA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	46/48			chr18	TogoVar
RUNDC3B_chr7_87623398_87837296	87626437	C C	CATATATA others(45): Show CATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATTGT CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0012 a0001c0001t0047g0012	1	202	0.0050	52	c.-23 others(63): Show c.-2387_-2386insATATATATGTGTCATATATATTGTCATATATATG TGTCATATATATTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1960		chr7	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(45): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp2 NA18946.hp1 NA18946.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0002 a0001c0008t0028 a0001c0004t0002 a0001c0008t0028	a0001c0004t0002g0092 a0001c0008t0028g0039 a0001c0004t0002g0092 a0001c0008t0028g0039	2	100	0.0200	52	c.49- others(69): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0009 a0001c0049t0009	a0001c0049t0009g0044 a0001c0049t0009g0044	1	100	0.0100	52	c.774 others(69): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473446	T T	TTTCTTTC others(45): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTC TTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0092 a0001c0004t0002g0092	1	100	0.0100	52	c.170 others(71): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTCTTCTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469531	T T	TATTATAT others(45): Show TATTATATATTTAATATATATTTTATATATAAATATATATTATATATATT TAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02258.hp1 HG02451.hp2 others(7): Show HG01074.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0003g0029 others(7): Show a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0003g0029 a0001c0001t0003g0063 a0001c0001t0003g0125 a0001c0001t0006g0043 a0001c0001t0006g0087 a0001c0001t0017g0036 a0001c0002t0001g0034 a0001c0003t0002g0126	10	188	0.0532	52	c.193 others(71): Show c.193-29571_193-29570insTTAAATATATATAATATATATTTATA TATAAAATATATATTAAATATATAAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(45): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	262	0.0038	52	c.716 others(71): Show c.716-12973_716-12972insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(45): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19088.hp2 NA19002.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0213 a0001c0001t0037g0295 a0001c0001t0037g0213 a0001c0001t0037g0295	2	340	0.0059	52	c.25 others(63): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(45): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCCTCCCT CTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0221 a0002c0002t0004g0221	1	262	0.0038	52	c.249 others(71): Show c.2496-1601_2496-1600insGAGAGGGAGGGGCGAGGGGAGAGGGA GGGTGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133734412	T T	TTCACTCA others(45): Show TTCACTCATTCATTCATTCACTCATTCATTCATTCACTCATTCACTCATT CAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0079 a0005c0019t0001g0079	1	262	0.0038	52	c.-30 others(67): Show c.-30-210_-30-209insGTGAATGAGTGAATGAGTGAATGAATGAAT GAGTGAATGAATGAATGAGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	1/20			chr9	TogoVar

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