Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RUFY1_chr5_179545554_179615012	179585656	C C	CATCTTCT others(14): Show CATCTTCTCTGAGTTAATTGGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0217 a0001c0003t0002g0217	1	376	0.0027	21	c.957 others(36): Show c.957-139_957-119dupATCTTCTCTGAGTTAATTGGA	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0003 a0001c0001t0024 a0001c0002t0003	a0001c0001t0024g0132 a0001c0002t0003g0145 a0001c0001t0024g0132 a0001c0002t0003g0145	2	170	0.0118	21	c.59- others(38): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930300	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	170	0.0059	21	c.59- others(38): Show c.59-37338_59-37337insATATATATATATATATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03669.hp2 HG03579.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0042 a0001c0001t0023g0115 a0001c0001t0001g0042 a0001c0001t0023g0115	2	170	0.0118	21	c.59- others(38): Show c.59-74377_59-74357dupTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35022895	G G	GAATAATA others(14): Show GAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01109.hp2 others(2): Show HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01496.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0002t0007	a0001c0001t0001g0064 a0001c0001t0001g0102 a0001c0001t0009g0157 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0102 a0001c0001t0009g0157 a0001c0001t0020g0068 a0001c0002t0007g0057	5	170	0.0294	21	c.58+ others(38): Show c.58+25926_58+25946dupATTATTATTATTATTATTATT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC2_chr9_35485111_35566895	35495022	T T	TTATATAT others(14): Show TTATATATTATATATACTATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	322	0.0031	21	c.-93 others(38): Show c.-93+4858_-93+4878dupTATATATACTATAGTATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35495030	T T	TATATATA others(14): Show TATATATACTATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01069.hp2 others(32): Show HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 NA19030.hp1 NA19030.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0006c0017t0003	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0256 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0007g0028 a0001c0001t0007g0039 a0001c0001t0012g0251 a0001c0002t0001g0029 a0001c0002t0003g0024 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0006c0017t0003g0016	35	322	0.1087	21	c.-93 others(38): Show c.-93+4879_-93+4899dupAATATATACTATAGTATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUSC2_chr9_35485111_35566895	35500146	A A	ACTGTATT others(14): Show ACTGTATTAGTCTGTTTTTATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01069.hp2 others(43): Show HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18951.hp2 NA18998.hp2 NA19007.hp1 NA20129.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0006c0017t0003	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 others(42): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0002g0051 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0199 a0001c0001t0006g0193 a0001c0001t0006g0200 a0001c0001t0007g0028 a0001c0001t0007g0039 a0001c0001t0011g0248 a0001c0001t0012g0251 a0001c0002t0001g0029 a0001c0002t0003g0024 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0006c0017t0003g0016	46	322	0.1429	21	c.-93 others(38): Show c.-93+9978_-93+9998dupTATTAGTCTGTTTTTATGCTG	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19068.hp2 HG00741.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0285 a0001c0001t0001g0107 a0001c0001t0001g0285	2	480	0.0042	21	c.535 others(38): Show c.535-1968_535-1948dupTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RWDD4_chr4_183634635_183664185	183654734	G G	GAGGACAG others(14): Show GAGGACAGTGGAGCTAAGTCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0265 a0001c0003t0002g0265	1	480	0.0021	21	c.105 others(38): Show c.105+1146_105+1147insAGGACTTAGCTCCACTGTCCT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	2/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19088.hp2 HG01358.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0105 a0001c0001t0001g0019 a0001c0001t0001g0105	2	210	0.0095	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATATATTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG00738.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0182 a0001c0001t0001g0133 a0001c0001t0001g0182	2	210	0.0095	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATATTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19010.hp2 HG03486.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0128 a0001c0001t0001g0077 a0001c0001t0001g0128	2	210	0.0095	21	c.49+ others(38): Show c.49+20085_49+20086insATATATATATATATTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	210	0.0048	21	c.756 others(38): Show c.756-3314_756-3294dupAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134368875	A A	ATGTGTGT others(14): Show ATGTGTGTGTGGGGGTTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG03195.hp2 others(1): Show HG01891.hp2 HG02559.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0061	a0001c0001t0008g0125 a0001c0001t0010g0122 a0001c0001t0011g0121 others(1): Show a0001c0001t0008g0125 a0001c0001t0010g0122 a0001c0001t0011g0121 a0001c0001t0061g0100	4	232	0.0172	21	c.29- others(38): Show c.29-32749_29-32748insTGGGGGTTGTGTGTGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRB_chr6_33188588_33205665	33194092	G G	GCCCCTTC others(14): Show GCCCCTTCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02922.hp2 HG02965.hp1 others(2): Show HG01123.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0020 a0001c0003t0009 a0001c0003t0020	a0001c0003t0009g0013 a0001c0003t0020g0040 a0001c0003t0009g0013 a0001c0003t0020g0040	5	391	0.0128	21	c.56 others(30): Show c.569_*589dupGTGGTGGTGGTGGTGAAGGGG	RXRB	ENSG00000204231.11	transcript	ENST00000374680.4	protein_coding	10/10	589		chr6	TogoVar
RXRG_chr1_165395922_165450126	165406174	A A	ACTGCTAG others(14): Show ACTGCTAGATGGCCTCAGAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(180): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0002c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0002g0065 a0001c0001t0002g0080 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0002t0001g0031 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0133 a0001c0002t0001g0155 a0001c0002t0001g0172 a0001c0002t0001g0263 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0027 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0156 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0262 a0001c0002t0003g0127 a0001c0002t0005g0114 a0001c0002t0005g0141 a0001c0002t0006g0130 a0001c0002t0007g0311 a0001c0002t0007g0313 a0001c0002t0007g0314 a0001c0002t0013g0316 a0001c0003t0001g0001 a0001c0003t0001g0024 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0077 a0001c0003t0001g0100 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0181 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0230 a0001c0003t0001g0239 a0001c0003t0001g0287 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0002g0074 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0187 a0001c0003t0002g0194 a0001c0003t0002g0207 a0001c0003t0002g0229 a0001c0003t0002g0300 a0001c0003t0011g0164 a0001c0004t0001g0046 a0001c0004t0001g0242 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0252 a0001c0004t0002g0250 a0001c0005t0001g0044 a0001c0006t0001g0101 a0001c0006t0001g0140 a0001c0011t0001g0116 a0002c0009t0001g0307	183	412	0.4442	21	c.124 others(38): Show c.1244+617_1244+637dupATCTCTGAGGCCATCTAGCAG	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	9/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134180862	C C	CTCAAGGA others(14): Show CTCAAGGACTGAATGCTCAGTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	376	0.0027	21	c.117 others(40): Show c.1172+2119_1172+2139dupTACTGAGCATTCAGTCCTTGA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	10/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134238923	C C	CCGGAATC others(14): Show CCGGAATCTCTCTTGAATACTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	376	0.0027	21	c.232 others(40): Show c.232+11479_232+11499dupAAGTATTCAAGAGAGATTCCG	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	376	0.0027	21	c.232 others(36): Show c.232+485_232+505dupAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0038 a0007c0038	a0007c0038t0002 a0007c0038t0002	a0007c0038t0002g0215 a0007c0038t0002g0215	1	218	0.0046	21	c.102 others(42): Show c.10259+1245_10259+1265dupAAAAAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	100	0.0100	21	c.274 others(38): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237401464	A A	AAGTATAA others(14): Show AAGTATAAGTATAAATAAGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03579.hp2 NA19043.hp2 HG01109.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0022 a0001c0002 a0001c0014 a0001c0022	a0001c0002t0003 a0001c0014t0035 a0001c0022t0014 a0001c0002t0003 a0001c0014t0035 a0001c0022t0014	a0001c0002t0003g0008 a0001c0014t0035g0031 a0001c0022t0014g0066 a0001c0002t0003g0008 a0001c0014t0035g0031 a0001c0022t0014g0066	3	100	0.0300	21	c.773 others(40): Show c.773+13281_773+13282insAGTATAAGTATAAATAAGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0073 a0001c0045t0001g0073	1	100	0.0100	21	c.100 others(40): Show c.1006-4861_1006-4841dupTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623386	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03516.hp1 HG01261.hp2 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0019 a0001c0017 a0001c0019	a0001c0017t0037 a0001c0019t0022 a0001c0017t0037 a0001c0019t0022	a0001c0017t0037g0032 a0001c0019t0022g0035 a0001c0017t0037g0032 a0001c0019t0022g0035	2	100	0.0200	21	c.591 others(38): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104			chr1	TogoVar
RYR3_chr15_33305967_33871102	33705101	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02723.hp2 HG01071.hp2 HG02723.hp2	a0003 a0015 a0003 a0015	a0003c0043 a0015c0011 a0003c0043 a0015c0011	a0003c0043t0001 a0015c0011t0009 a0003c0043t0001 a0015c0011t0009	a0003c0043t0001g0106 a0015c0011t0009g0067 a0003c0043t0001g0106 a0015c0011t0009g0067	2	154	0.0130	21	c.648 others(40): Show c.6484-1818_6484-1817insCTCTCTCTCTCTCTCTCTCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0113 a0003c0012t0003g0113	1	154	0.0065	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATATATATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0098 a0004c0006t0005g0098	1	154	0.0065	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATATTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0051 a0051	a0051c0067 a0051c0067	a0051c0067t0004 a0051c0067t0004	a0051c0067t0004g0069 a0051c0067t0004g0069	1	154	0.0065	21	c.983 others(40): Show c.9830+1201_9830+1202insATATATATATATATTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A7_chr1_153452744_153465651	153465116	A A	AGTGGCTC others(14): Show AGTGGCTCTATGGCAACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03209.hp1 HG02258.hp2 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	420	0.0071	21	c.-45 others(32): Show c.-4527_-4526insCCTGTGTTGCCATAGAGCCAC	S100A7	ENSG00000143556.9	transcript	ENST00000368723.4	protein_coding		4466		chr1	TogoVar
SAA1_chr11_18261264_18274967	18264800	A A	AGGGGAGG others(14): Show AGGGGAGGGGAGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	442	0.0023	21	c.-15 others(32): Show c.-1501_-1500insGGGGAGGGGAGGGGAGGGGAG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1463		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG01891.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0068 a0004c0004t0001g0069	2	284	0.0070	21	c.37 others(32): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG02735.hp1 HG01433.hp2 HG02559.hp1 HG02735.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0012 a0003c0003 a0010c0012	a0003c0003t0001 a0010c0012t0001 a0003c0003t0001 a0010c0012t0001	a0003c0003t0001g0009 a0003c0003t0001g0113 a0010c0012t0001g0038 a0003c0003t0001g0009 a0003c0003t0001g0113 a0010c0012t0001g0038	3	284	0.0106	21	c.37 others(32): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTC	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03195.hp2 HG03225.hp1 others(2): Show HG02055.hp1 HG03195.hp2 HG03225.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0035 others(1): Show a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0038	5	352	0.0142	21	c.-22 others(32): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02683.hp1 HG02132.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0030 a0001c0002t0005g0149 a0001c0002t0002g0030 a0001c0002t0005g0149	2	354	0.0057	21	c.-28 others(32): Show c.-2803_-2802insTATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23353029	A A	ACCCAGAA others(14): Show ACCCAGAACTTTTCAGGACAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG02723.hp2 others(3): Show HG01361.hp1 HG01496.hp1 HG02723.hp2 HG02922.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0003t0001 a0001c0006t0019 a0001c0002t0002 a0001c0003t0001 a0001c0006t0019	a0001c0002t0002g0082 a0001c0003t0001g0002 a0001c0003t0001g0327 others(2): Show a0001c0002t0002g0082 a0001c0003t0001g0002 a0001c0003t0001g0327 a0001c0003t0001g0364 a0001c0006t0019g0223	6	378	0.0159	21	c.218 others(38): Show c.2185+735_2185+755dupGTTGTCCTGAAAAGTTCTGGG	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	9/9			chr13	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	342	0.0029	21	c.445 others(36): Show c.445+186_445+206dupTTTTTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD11_chr1_918923_949574	930081	A A	AGCCCCAC others(14): Show AGCCCCACCTTCCTCTCCTCCT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18945.hp1 NA18960.hp1 NA18998.hp2 NA18945.hp1 NA18960.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0352 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0352	3	434	0.0069	21	c.610 others(33): Show c.610-23_610-3dupTTCCTCTCCTCCTGCCCCACC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54739055	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0027 a0001c0017t0021 a0001c0001t0027 a0001c0017t0021	a0001c0001t0027g0238 a0001c0017t0021g0016 a0001c0001t0027g0238 a0001c0017t0021g0016	2	262	0.0076	21	c.979 others(38): Show c.979+1787_979+1788insTTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAP130_chr2_127936222_128033059	127947801	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	350	0.0029	21	c.279 others(40): Show c.2797+2067_2797+2068insCACACACACACACACACACAC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	350	0.0029	21	c.870 others(38): Show c.870-3524_870-3504dupAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	2	414	0.0048	21	c.-20 others(30): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0156 a0001c0001t0096g0156	1	420	0.0024	21	c.29 others(32): Show c.2908_*2928dupAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	322	0.0031	21	c.244 others(34): Show c.244+29_244+49dupTTTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(22): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01943.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG04115.hp1 HG04228.hp1 NA18983.hp1 NA19043.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0006 a0001c0016 others(13): Show a0001c0001 a0001c0006 a0001c0016 a0001c0031 a0002c0002 a0002c0005 a0002c0008 a0002c0015 a0002c0018 a0002c0025 a0002c0034 a0003c0003 a0003c0009 a0003c0026 a0004c0067 a0012c0066	a0001c0001t0001 a0001c0006t0003 a0001c0016t0002 others(16): Show a0001c0001t0001 a0001c0006t0003 a0001c0016t0002 a0001c0031t0002 a0002c0002t0001 a0002c0005t0001 a0002c0005t0003 a0002c0008t0001 a0002c0015t0001 a0002c0018t0003 a0002c0025t0001 a0002c0034t0003 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0009t0001 a0003c0026t0001 a0004c0067t0004 a0012c0066t0002	a0001c0001t0001g0151 a0001c0006t0003g0153 a0001c0016t0002g0249 others(22): Show a0001c0001t0001g0151 a0001c0006t0003g0153 a0001c0016t0002g0249 a0001c0031t0002g0245 a0002c0002t0001g0206 a0002c0005t0001g0113 a0002c0005t0003g0096 a0002c0005t0003g0114 a0002c0005t0003g0125 a0002c0008t0001g0042 a0002c0015t0001g0112 a0002c0018t0003g0124 a0002c0018t0003g0127 a0002c0025t0001g0088 a0002c0034t0003g0060 a0002c0034t0003g0154 a0003c0003t0002g0256 a0003c0003t0003g0158 a0003c0003t0004g0003 a0003c0003t0004g0074 a0003c0003t0004g0248 a0003c0009t0001g0058 a0003c0026t0001g0261 a0004c0067t0004g0238 a0012c0066t0002g0235	25	262	0.0954	21	c.915 others(38): Show c.915+3376_915+3396dupATTATTATTATTATTATTATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(14): Show ATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00642.hp1 others(27): Show HG00323.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01346.hp1 HG01517.hp2 HG01943.hp1 HG02040.hp1 HG02129.hp1 HG02155.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp2 NA18980.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0016 others(12): Show a0001c0001 a0001c0007 a0001c0016 a0001c0033 a0001c0051 a0001c0052 a0002c0002 a0002c0004 a0002c0010 a0002c0014 a0002c0020 a0003c0003 a0003c0013 a0003c0054 a0004c0023	a0001c0001t0001 a0001c0001t0009 a0001c0007t0001 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0007t0001 a0001c0016t0003 a0001c0033t0001 a0001c0051t0002 a0001c0052t0001 a0002c0002t0001 a0002c0004t0001 a0002c0010t0001 a0002c0014t0001 a0002c0020t0001 a0002c0020t0004 a0003c0003t0001 a0003c0013t0004 a0003c0054t0001 a0004c0023t0002	a0001c0001t0001g0078 a0001c0001t0001g0147 a0001c0001t0001g0152 others(27): Show a0001c0001t0001g0078 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0009g0202 a0001c0007t0001g0159 a0001c0007t0001g0162 a0001c0016t0003g0187 a0001c0033t0001g0146 a0001c0051t0002g0032 a0001c0052t0001g0144 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0004t0001g0075 a0002c0010t0001g0076 a0002c0014t0001g0189 a0002c0014t0001g0203 a0002c0020t0001g0181 a0002c0020t0004g0016 a0003c0003t0001g0143 a0003c0013t0004g0052 a0003c0054t0001g0145 a0004c0023t0002g0237	30	262	0.1145	21	c.915 others(38): Show c.915+3370_915+3371insCTATTATTATTATTATTATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0047 a0001c0001t0001g0052	2	276	0.0073	21	c.502 others(40): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS1_chr1_109208918_109243182	109226677	A A	ATATATAT others(14): Show ATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	402	0.0025	21	c.208 others(38): Show c.208-1675_208-1674insTATATATATATATATATATAC	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10			chr1	TogoVar
SARS2_chr19_38910266_38935763	38927945	A A	AGAGAGAG others(14): Show AGAGAGAGATACACACAGACTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	420	0.0024	21	c.268 others(38): Show c.268-1646_268-1645insCAGTCTGTGTGTATCTCTCTC	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02257.hp1 HG01258.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0013 a0002c0005t0006 a0001c0001t0013 a0002c0005t0006	a0001c0001t0013g0160 a0002c0005t0006g0105 a0001c0001t0013g0160 a0002c0005t0006g0105	2	322	0.0062	21	c.157 others(38): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

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