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
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(245): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0079	1	396	0.0025	252	c.-76 others(261): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(245): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01516.hp1 HG01517.hp2 others(4): Show HG01071.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 NA18953.hp2 NA18990.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021	a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0005g0052 others(2): Show a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0005g0052 a0001c0001t0005g0185 a0001c0001t0021g0045	7	396	0.0177	252	c.-76 others(261): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF213_chr17_80255852_80403794	80315706	A A	ATGGAGGT others(245): Show ATGGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTTGTGGTGGAGGT GGTGGTGGAGGTGATGGTGGTGATGGTGATGGTTGTGGAGCTGGTGGTGG AGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGGGATGGTG GTGATGGAGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGA GGTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGG TGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2	a0037 a0042 a0098 a0037 a0042 a0098	a0037c0145 a0042c0103 a0098c0109 a0037c0145 a0042c0103 a0098c0109	a0037c0145t0035 a0042c0103t0035 a0098c0109t0064 a0037c0145t0035 a0042c0103t0035 a0098c0109t0064	a0037c0145t0035g0174 a0042c0103t0035g0018 a0098c0109t0064g0084 a0037c0145t0035g0174 a0042c0103t0035g0018 a0098c0109t0064g0084	3	292	0.0103	252	c.281 others(271): Show c.2812-1478_2812-1477insGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTTGTGGTGGAGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATG GTTGTGGAGCTGGTGGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGT GGTGGTGAAGGGGATGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGACAG TGGTGATGCTGGTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTG GTGGAGGTGATGGTGGAGGTGGTGGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	273176	C C	CGGGTGAC others(245): Show CGGGTGACTTCAGGGTGAGACCCTGGCGAGGGTGACTTCAGGGAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGT GAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGT CAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGG TGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAG CGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	133	0.0075	252	c.438 others(269): Show c.438+8591_438+8592insTCGCTGGGGTCTCACCCTGAAGTCACCC TCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTC CTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGGGGT CTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGC CAGGGTCTCACCCTGAAGTCACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273315	G G	GAGGGTGA others(245): Show GAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGG AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACG TCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGG GTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	133	0.0075	252	c.438 others(269): Show c.438+8452_438+8453insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCT GGGGTCTCACCCTGAAGTCACCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273443	A A	AGAGACCC others(245): Show AGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGCTACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAG GGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	252	c.438 others(269): Show c.438+8324_438+8325insACCCTGACGTCACCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCT CGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT AGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCC TGACGTCACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273491	C C	CGTCAGGG others(245): Show CGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGAAGAGACCC CAGCAAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGT GAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	252	c.438 others(269): Show c.438+8276_438+8277insATCACCCTCGCTGGGGTCTCACCCTGAA GTCACCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTTGCTGGGGTCTCTTCCTGACGTAGCCCTTG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCA CCCTTGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPL13_chr16_89555682_89569542	89566206	C C	CTGATCGG others(245): Show CTGATCGGGGATAGTCTCAGGAGGCGCTAGTCACGTGCCCCGGTGATCGG GGATAGTCTCAGAAGGCGCTAGTCTCCTGCCCCGGTGATCGGGGATAGTC TCAGAAGGCGCTAGTCTCCTGCCCCGGTGATCGGGGATAGTCTCAGGAGG CGCTAGTCACGTGCCCCGGTGATCGGGGATAGTCTCAGAAGGCGCTAGTC TCCTGCCCCGGTGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCCTGCCC CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	252	c.31 others(263): Show c.3164_*3165insTGATCGGGGATAGTCTCAGGAGGCGCTAGTCACG TGCCCCGGTGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCCTGCCCCGG TGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCCTGCCCCGGTGATCGGG GATAGTCTCAGGAGGCGCTAGTCACGTGCCCCGGTGATCGGGGATAGTCT CAGAAGGCGCTAGTCTCCTGCCCCGGTGATCGGGGATAGTCTCAGAAGGC GCTAGTCTCCTGCCCCGG	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1665		chr16	TogoVar
RPS6KB1_chr17_59888121_59955574	59929310	T T	TTTTTTTT others(245): Show TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	304	0.0033	252	c.530 others(267): Show c.530-807_530-806insTTTTTTTTTTTTTTTTTTTTTTATTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGG	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	5/14			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743875	C C	CCCTGGCT others(245): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0069 a0001c0003t0010g0069	1	196	0.0051	252	c.655 others(271): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(245): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCAC TGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03017.hp2 HG03239.hp2	a0001 a0001	a0001c0031 a0001c0035 a0001c0031 a0001c0035	a0001c0031t0011 a0001c0035t0095 a0001c0031t0011 a0001c0035t0095	a0001c0031t0011g0073 a0001c0035t0095g0041 a0001c0031t0011g0073 a0001c0035t0095g0041	2	196	0.0102	252	c.655 others(271): Show c.655-10076_655-10075insCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743973	A A	ACTAGTAC others(245): Show ACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGG TTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0133 a0001c0034t0004g0133	1	196	0.0051	252	c.655 others(271): Show c.655-10033_655-10032insTACAGCCCTGGCTACTAGCACTGTCC TGGTTACGAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACA GCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTG CTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTG GTTACTAGCACAGCCCTGGTTGCTAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744007	T T	TTACTAGC others(245): Show TTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0072 a0001c0096t0072	a0001c0096t0072g0171 a0001c0096t0072g0171	1	196	0.0051	252	c.655 others(269): Show c.655-9994_655-9993insTGTCCTGGTTGCTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744052	C C	CTGTCCTG others(245): Show CTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACT AGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGT TACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCC TGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGA GCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAG CAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20752.hp2 HG02280.hp1 NA20752.hp2	a0001 a0001	a0001c0094 a0001c0095 a0001c0094 a0001c0095	a0001c0094t0057 a0001c0095t0003 a0001c0094t0057 a0001c0095t0003	a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0094t0057g0136 a0001c0095t0003g0137	2	196	0.0102	252	c.655 others(269): Show c.655-9958_655-9957insTGTCCTGGTTACTAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGCTACTAGCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744133	C C	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCT GGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0027 a0001c0031t0027	a0001c0031t0027g0173 a0001c0031t0027g0173	1	196	0.0051	252	c.655 others(269): Show c.655-9867_655-9866insGTCCTGGTTACTAGCACAGCCCTGGTTG CTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGC CCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCA CTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCTACT AGCACAGCCCTGGTTACTAGCACT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744223	C C	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0034 a0001c0054t0034	a0001c0054t0034g0056 a0001c0054t0034g0056	1	196	0.0051	252	c.655 others(269): Show c.655-9778_655-9777insTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0002 a0001c0081t0002	a0001c0081t0002g0022 a0001c0081t0002g0022	1	196	0.0051	252	c.655 others(269): Show c.655-9670_655-9669insTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744361	T T	TCCTGGCT others(245): Show TCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0003 a0001c0085t0003	a0001c0085t0003g0162 a0001c0085t0003g0162	1	196	0.0051	252	c.655 others(269): Show c.655-9644_655-9643insCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744403	C C	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	196	0.0051	252	c.655 others(269): Show c.655-9598_655-9597insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744403	C C	CTACTAGC others(245): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0002 a0001c0081t0002	a0001c0081t0002g0022 a0001c0081t0002g0022	1	196	0.0051	252	c.655 others(269): Show c.655-9598_655-9597insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(245): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0094 a0001c0010t0094	a0001c0010t0094g0054 a0001c0010t0094g0054	1	196	0.0051	252	c.655 others(269): Show c.655-9508_655-9507insAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	C C	CCCTGGCT others(245): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0065 a0001c0013t0013g0065	1	196	0.0051	252	c.655 others(269): Show c.655-9446_655-9445insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(245): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG00735.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0270 a0001c0001t0002g0238 a0001c0001t0002g0270	2	276	0.0073	252	c.494 others(271): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(245): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG02055.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0189 a0001c0001t0001g0220	2	276	0.0073	252	c.494 others(271): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(245): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATCTATAATATATATATTA TAGATATAATATATAATATATTATATATATAATATATAATATATTATATA TAATATATTATATATTATATATAATATATTATATATTATATCTATAATAT ATAATATATTATATCTATAATATATTATATGTAATATATATGTTATATCT ATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	172	0.0058	252	c.242 others(269): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATAATATATTATATATAATATATTATATATTATATA TATAATATATTATATATTATATCTATAATATATATATTATAGATATATTA TATATTATAGATATATTATATATTATAGATATATTATATATTATAGATAT ATTATATATTATAGATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SAMD11_chr1_918923_949574	934181	A A	AGGCGGCT others(245): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	434	0.0023	252	c.843 others(269): Show c.843-1569_843-1568insGGGGGAGGCGGCTGCGTTACTGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934693	C C	CCGTTACA others(245): Show CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	434	0.0023	252	c.843 others(269): Show c.843-1060_843-1059insGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(245): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGG GGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0245 a0002c0003t0004g0245	1	434	0.0023	252	c.843 others(267): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCAGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGAGGC GGCTGCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668458	T T	TCACCCTC others(245): Show TCACCCTCCACTCCCCTCACCCCTCTCCTCCCTCACCCTCCCCTCCCCTC GCCCTCCCACTCCCCCCTCGCCCTCCCTCTCCCCCCACCCTCCCCTCCCT CACCCTCACCCCACCCACCCTCTCCCTCACCCTCCCTCCCCTCACCCCTC CCTCCCTCACCCCCCCCCCTCTCCCACGCCCTCCCCTCCTCCCCTCCCCA CCCTCCCCTCACCCCCACCCTCCCTCCCCCACCCTCCACCCTCCCTCTCC CCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0003 a0003c0058t0003	a0003c0058t0003g0161 a0003c0058t0003g0161	1	262	0.0038	252	c.249 others(271): Show c.2496-1589_2496-1588insTGGGGAGAGGGAGGGTGGAGGGTGGG GGAGGGAGGGTGGGGGTGAGGGGAGGGTGGGGAGGGGAGGAGGGGAGGGC GTGGGAGAGGGGGGGGGGTGAGGGAGGGAGGGGTGAGGGGAGGGAGGGTG AGGGAGAGGGTGGGTGGGGTGAGGGTGAGGGAGGGGAGGGTGGGGGGAGA GGGAGGGCGAGGGGGGAGTGGGAGGGCGAGGGGAGGGGAGGGTGAGGGAG GAGAGGGGTGAGGGGAGTGGAGGGTG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669269	C C	CTCTCTCC others(245): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCC CTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTT CCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCC TCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0003 a0002c0021t0003	a0002c0021t0003g0209 a0002c0021t0003g0209	1	262	0.0038	252	c.249 others(271): Show c.2495+1314_2495+1315insAGAGGGAAGGTGAGGGAGAGGGAGGG TAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGT GAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGA GGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGA GGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGG GAGGGTAAGGGAGAGGGAAGGAGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(245): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATA GCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0189 a0001c0001t0003g0174 a0001c0001t0003g0189	2	224	0.0089	252	c.55+ others(269): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCT ATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(245): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	390	0.0026	252	c.48 others(263): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(245): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTG CAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAA ACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCA GTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	386	0.0026	252	c.21+ others(267): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(245): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTAT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAA ACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCA GTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	386	0.0026	252	c.21+ others(267): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCML4_chr6_107697154_107829313	107783141	G G	GAGGTGCT others(245): Show GAGGTGCTGGTCTGAGTTAGCCAGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAG TTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGG TCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGG TGCTGGTCTGAGTTAGCCAGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	250	0.0040	252	c.-59 others(271): Show c.-59-10756_-59-10755insGCCATCAGGCAAACTCAGACCAGCAC CTGCCATCTGGCTAACTCAGACCAGCACCTCCCATCAGGCAAACTCAGAC CAGCACCTGCCATCAGGCAAACTCAGACCAGCACCTGCCATCAGGCAAAC TCAGACCAGCACCTGCCATCAGGCAAACTCAGACCAGCACCTGCCATCAG GCAAACTCAGACCAGCACCTGCCATCAGGCAAACTCAGACCAGCACCTGC CATCTGGCTAACTCAGACCAGCACCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTGGGG others(245): Show GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0126 a0004c0005t0006g0126	1	290	0.0035	252	c.464 others(265): Show c.464+83_464+84insTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGA GTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCT others(245): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	290	0.0035	252	c.166 others(269): Show c.1662+907_1662+908insGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289633	T T	TCCCCCGT others(245): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	290	0.0035	252	c.166 others(269): Show c.1663-635_1663-634insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC23A_chr14_39026919_39108235	39033513	A A	ATAATAGG others(245): Show ATAATAGGAGTGTCTTTATTCATAGGCTGATGGGATCACATAGGAGTTTA TGCTATGAGATGAGATGAATCAGGATGGCGGCTAGTCACCACGAAGACTA ACAATGGAATTAGAGGCTTGGTGCTTTTAATAGGAGTGTCTTTATTCATA GGCTGATGGGATCACATAGGAGTTTATGCTATGAGATGAGATGAATCAGG ATGGCGGCTAGTCACCACGAAGACTAACAATGGAATTAGAGGCTTGGTGC TTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA20129.hp1 HG00609.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0343 a0001c0001t0001g0258 a0001c0001t0001g0343	2	366	0.0055	252	c.220 others(269): Show c.2209-186_2209-185insAAAGCACCAAGCCTCTAATTCCATTGTT AGTCTTCGTGGTGACTAGCCGCCATCCTGATTCATCTCATCTCATAGCAT AAACTCCTATGTGATCCCATCAGCCTATGAATAAAGACACTCCTATTAAA AGCACCAAGCCTCTAATTCCATTGTTAGTCTTCGTGGTGACTAGCCGCCA TCCTGATTCATCTCATCTCATAGCATAAACTCCTATGTGATCCCATCAGC CTATGAATAAAGACACTCCTATTA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	19/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39033634	T T	TGCTTTTA others(245): Show TGCTTTTAATAGGAGTGTCTTTATTCATAGGCTGATGGGATCACATAGGA GTTTATGCTATGAGATGAGATGAATCAGGATGGCGGCTAGTCACCACGAA GACTAACAATGGAATTAGAGGCTTGGTGCTTTTAATAGGAGTGTCTTTAT TCATAGGCTGATGGGATCACATAGGAGTTTATGCTATGAGATGAGATGAA TCAGGATGGCGGCTAGTCACCACGAAGACTAACAATGGAATTAGAGGCTT GGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	366	0.0027	252	c.220 others(269): Show c.2209-307_2209-306insCCCAAGCCTCTAATTCCATTGTTAGTCT TCGTGGTGACTAGCCGCCATCCTGATTCATCTCATCTCATAGCATAAACT CCTATGTGATCCCATCAGCCTATGAATAAAGACACTCCTATTAAAAGCAC CAAGCCTCTAATTCCATTGTTAGTCTTCGTGGTGACTAGCCGCCATCCTG ATTCATCTCATCTCATAGCATAAACTCCTATGTGATCCCATCAGCCTATG AATAAAGACACTCCTATTAAAAGC	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	19/19			chr14	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(245): Show CATATATATATATATTCCATATATATATATTCCATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	324	0.0031	252	c.115 others(269): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TATATGGAATATATATATGGAATATATATATATATGGAATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(245): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATATAT TATTATATTATATTTACATATAATGTATTATTATATTATATTTACATATA ATG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	276	0.0036	252	c.453 others(271): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATA TTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086527	A A	ATATTATT others(245): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATGTATTATTATATTATATTTACATATA ATG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	276	0.0036	252	c.453 others(271): Show c.453+23942_453+23943insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATA TTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086555	A A	ATATTATT others(245): Show ATATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATGTAT TATTATATTATATTTACATATAATGTATTATTATATTATATTTACATATA ATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19057.hp2 HG01106.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0122 a0001c0002t0002g0271 a0001c0001t0001g0122 a0001c0002t0002g0271	2	276	0.0073	252	c.453 others(271): Show c.453+23914_453+23915insCATTATATGTAAATATAATATAATAA TACATTATATGTAAATATAATATAATAATACATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATA TTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77485004	G G	GGGTGATG others(245): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTG GTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGT GGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0141 a0002c0002t0031g0141	1	150	0.0067	252	c.914 others(269): Show c.914-2410_914-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGA TGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATT GTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485004	G G	GGGTGATG others(245): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTG GTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGT GGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18522.hp2 NA19091.hp2 HG04115.hp1 NA18522.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0015 a0001c0004t0041 a0002c0002t0055 a0001c0004t0015 a0001c0004t0041 a0002c0002t0055	a0001c0004t0015g0114 a0001c0004t0041g0003 a0002c0002t0055g0067 a0001c0004t0015g0114 a0001c0004t0041g0003 a0002c0002t0055g0067	3	158	0.0190	252	c.860 others(269): Show c.860-2410_860-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGA TGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATT GTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(245): Show ATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGTTAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0177 a0001c0004t0003g0177	1	376	0.0027	252	c.101 others(271): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(245): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	376	0.0027	252	c.101 others(271): Show c.1014-1164_1014-1163insTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(245): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	376	0.0027	252	c.101 others(271): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431867	A A	ATAGGGTG others(245): Show ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGT GGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0233 a0001c0004t0010g0233	1	376	0.0027	252	c.101 others(271): Show c.1014-1091_1014-1090insTAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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