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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RBFOX1_chr16_6014024_7718340	7029227	TATATATA others(23): Show TATATATACGTATACGTATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02965.hp2 others(8): Show HG02451.hp1 HG02559.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0030 a0001c0001t0042 a0001c0002t0028	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0003g0041 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0003g0041 a0001c0001t0011g0035 a0001c0001t0012g0054 a0001c0001t0014g0046 a0001c0001t0015g0045 a0001c0001t0019g0055 a0001c0001t0030g0024 a0001c0001t0042g0022 a0001c0002t0028g0031	11	68	0.1618	-30	c.-15 others(49): Show c.-15-22822_-15-22793delCGTATACGTATATATATACACACATA TATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7656444	AAGAGCAA others(23): Show AAGAGCAAGAACCCCTATCTTGTGTTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18989.hp1 NA19010.hp1 HG00558.hp2 NA18989.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0001t0018 a0001c0011t0013 a0001c0001t0006 a0001c0001t0018 a0001c0011t0013	a0001c0001t0006g0155 a0001c0001t0018g0156 a0001c0011t0013g0085 a0001c0001t0006g0155 a0001c0001t0018g0156 a0001c0011t0013g0085	3	234	0.0128	-30	c.950 others(47): Show c.950+2515_950+2544delCTTGTGTTCAGGGAGAGCAAGAACCCCT AT		RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79582260	ATGCATGC others(23): Show ATGCATGCATGTGCCTGTGTGTGCATCTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0106 a0001c0001t0026g0106	1	154	0.0065	-30	c.-32 others(51): Show c.-320+28536_-320+28565delCACAGATGCACACACAGGCACATG CATGCA		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RBKS_chr2_27776379_27895387	27841969	GAGGAAAA others(23): Show GAGGAAAAAATTGGGATTTACCACCATGTAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	268	0.0037	-30	c.514 others(47): Show c.514+1068_514+1097delGTACATGGTGGTAAATCCCAATTTTTTC CT		RBKS	ENSG00000171174.15	transcript	ENST00000302188.8	protein_coding	5/7						chr2	TogoVar
RBM12_chr20_35643925_35669900	35653332	CTGGGCAG others(23): Show CTGGGCAGTCCCACACCGGGCAGTCCCGCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0071 a0005c0010t0002g0071	1	308	0.0033	-30	c.196 others(39): Show c.1961_1990delATGCGGGACTGCCCGGTGTGGGACTGCCCA	p.Asn others(13): Show p.Asn654_Pro663del	RBM12	ENSG00000244462.8	transcript	ENST00000374114.8	protein_coding	3/3	2238/6646	1961/2799	654/932			chr20	TogoVar
RBM25_chr14_73053534_73128899	73103928	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18989.hp2 NA18939.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0001g0332 a0001c0001t0001g0342	2	388	0.0052	-30	c.115 others(47): Show c.1154+452_1154+481delTCTCTCTCTCTCTCTCTCTCACACACAC AC		RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103930	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01169.hp2 others(6): Show HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp2 HG02735.hp2 HG03831.hp2 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0005 a0001c0001t0008g0007 a0001c0001t0008g0009 others(6): Show a0001c0001t0008g0005 a0001c0001t0008g0007 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0012g0017	9	388	0.0232	-30	c.115 others(47): Show c.1154+454_1154+483delTCTCTCTCTCTCTCTCTCACACACACAC AC		RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM27_chr5_146198605_146294223	146290869	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	272	0.0037	-30	c.48 others(41): Show c.4840_*4869delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding					1647		chr5	TogoVar
RBM28_chr7_128292685_128348908	128346634	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0135 a0001c0001t0079g0135	1	382	0.0026	-30	c.-28 others(41): Show c.-2871_-2842delTATATATATATAGAGAGAGAGAGAGAGAGA		RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding					2727		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346636	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0081 a0001c0001t0018g0081	1	382	0.0026	-30	c.-28 others(41): Show c.-2873_-2844delTATATATATATATAGAGAGAGAGAGAGAGA		RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding					2729		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346640	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp1 others(2): Show HG00642.hp2 HG01167.hp1 HG01169.hp1 HG02559.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0037 a0001c0001t0098	a0001c0001t0001g0205 a0001c0001t0005g0023 a0001c0001t0037g0177 others(2): Show a0001c0001t0001g0205 a0001c0001t0005g0023 a0001c0001t0037g0177 a0001c0001t0037g0187 a0001c0001t0098g0166	5	382	0.0131	-30	c.-28 others(41): Show c.-2877_-2848delTATATATATATATATATAGAGAGAGAGAGA		RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding					2733		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346642	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0111 a0001c0001t0072g0111	1	382	0.0026	-30	c.-28 others(41): Show c.-2879_-2850delTATATATATATATATATATAGAGAGAGAGA		RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding					2735		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346646	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0208 a0001c0001t0103g0208	1	382	0.0026	-30	c.-28 others(41): Show c.-2883_-2854delTATATATATATATATATATATATAGAGAGA		RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding					2739		chr7	TogoVar
RBM33_chr7_155639661_155786480	155673618	ATATATAT others(23): Show ATATATATACACACATATACATACACACGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0079 a0001c0018t0079	a0001c0018t0079g0079 a0001c0018t0079g0079	1	306	0.0033	-30	c.171 others(45): Show c.171+742_171+771delCACACATATACATACACACGTGTATATATA		RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235155822	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	388	0.0026	-30	c.366 others(45): Show c.366-740_366-711delATATATATATATATATATATATATATATAT		RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10						chr1	TogoVar
RBM46_chr4_154776272_154833813	154827211	TACTATAA others(23): Show TACTATAAGTTGATAATGGTTTTTTGAAGTA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0265 a0001c0001t0001g0266	2	374	0.0054	-30	c.140 others(47): Show c.1403-627_1403-598delAACTATAAGTTGATAATGGTTTTTTGAA GT		RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
RBM47_chr4_40418280_40634864	40423654	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02258.hp2 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0123 a0001c0012t0082 a0001c0003t0123 a0001c0012t0082	a0001c0003t0123g0275 a0001c0012t0082g0030 a0001c0003t0123g0275 a0001c0012t0082g0030	2	278	0.0072	-30	c.22 others(41): Show c.2220_*2249delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7				2220		chr4	TogoVar
RBM47_chr4_40418280_40634864	40592953	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0124 a0001c0001t0040g0124	1	278	0.0036	-30	c.-24 others(51): Show c.-240+36413_-240+36442delAAAATATATATATATATATATATA TATATA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBM47_chr4_40418280_40634864	40592957	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0148 a0001c0003t0006g0148	1	278	0.0036	-30	c.-24 others(51): Show c.-240+36409_-240+36438delAAAAAAAATATATATATATATATA TATATA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03492.hp2 NA18998.hp2 HG00609.hp1 HG03492.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0013 a0002c0002 a0001c0003 a0001c0013 a0002c0002	a0001c0003t0002 a0001c0013t0030 a0002c0002t0042 a0001c0003t0002 a0001c0013t0030 a0002c0002t0042	a0001c0003t0002g0049 a0001c0013t0030g0047 a0002c0002t0042g0098 a0001c0003t0002g0049 a0001c0013t0030g0047 a0002c0002t0042g0098	3	278	0.0108	-30	c.-24 others(51): Show c.-240+36407_-240+36436delAAAAAAAAAATATATATATATATA TATATA		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBM6_chr3_49935150_50082249	49984611	ACATCGCA others(23): Show ACATCGCATCGCATCGCATCGCATCGCATCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(29): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01934.hp1 HG02004.hp1 HG02074.hp2 HG02155.hp1 HG03927.hp1 HG04184.hp1 NA18952.hp2 NA18960.hp2 NA18965.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp2 NA19057.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0150 others(29): Show a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0204 a0001c0002t0001g0205 a0004c0007t0001g0171 a0004c0007t0001g0173 a0004c0007t0001g0203	32	218	0.1468	-30	c.148 others(49): Show c.1483+9243_1483+9272delCGCATCGCATCGCATCGCATCGCATC GCAT		RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBM6_chr3_49935150_50082249	50052986	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	218	0.0046	-30	c.163 others(49): Show c.1633-1328_1633-1299delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS2_chr12_56516820_56601193	56546339	ATACATTA others(23): Show ATACATTATAAATATAATGTACAATATATTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0047 a0001c0002t0006 a0001c0002t0047	a0001c0002t0006g0092 a0001c0002t0047g0091 a0001c0002t0006g0092 a0001c0002t0047g0091	2	280	0.0071	-30	c.67- others(47): Show c.67-16067_67-16038delATATAATGTACAATATATTGTACATTAT AA		RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp2 HG02258.hp1 others(4): Show HG01071.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0062 a0001c0001t0068 others(4): Show a0001c0001t0008 a0001c0001t0062 a0001c0001t0068 a0001c0001t0077 a0001c0002t0034 a0001c0002t0046 a0001c0002t0047	a0001c0001t0008g0079 a0001c0001t0062g0087 a0001c0001t0068g0109 others(4): Show a0001c0001t0008g0079 a0001c0001t0062g0087 a0001c0001t0068g0109 a0001c0001t0077g0057 a0001c0002t0034g0114 a0001c0002t0046g0107 a0001c0002t0047g0038	7	116	0.0603	-30	c.638 others(49): Show c.638-48645_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29974976	ATATTTTA others(23): Show ATATTTTATATATAAAATACGTTTCTATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(12): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00673.hp2 HG01106.hp1 HG01261.hp2 HG01891.hp1 HG01934.hp2 HG02572.hp1 HG03579.hp2 NA18944.hp2 NA18957.hp2 NA18982.hp1 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 others(12): Show a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069 a0001c0001t0070 a0001c0001t0078 a0001c0002t0031 a0001c0002t0041 a0001c0002t0086 a0001c0004t0059	a0001c0001t0025g0010 a0001c0001t0029g0116 a0001c0001t0030g0045 others(12): Show a0001c0001t0025g0010 a0001c0001t0029g0116 a0001c0001t0030g0045 a0001c0001t0042g0096 a0001c0001t0043g0101 a0001c0001t0045g0013 a0001c0001t0060g0014 a0001c0001t0061g0002 a0001c0001t0069g0001 a0001c0001t0070g0075 a0001c0001t0078g0067 a0001c0002t0031g0039 a0001c0002t0041g0104 a0001c0002t0086g0068 a0001c0004t0059g0028	15	116	0.1293	-30	c.109 others(51): Show c.1099-13133_1099-13104delTTTATATATAAAATACGTTTCTAT ATTTAT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBP5_chr12_7118686_7133889	7129048	TTTCCTGA others(23): Show TTTCCTGAGGAAGGAACCTGGAGCAGGATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(419): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0003c0006 a0004c0004 a0005c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0007t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0003c0003t0008 a0003c0006t0001 a0004c0004t0001 a0004c0004t0006 a0005c0005t0003 a0006c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(128): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0005g0062 a0001c0001t0007g0106 a0001c0001t0009g0132 a0001c0007t0001g0039 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0085 a0002c0002t0001g0103 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0004g0027 a0002c0002t0004g0058 a0002c0002t0004g0105 a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0012 a0003c0003t0001g0024 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0008g0077 a0003c0006t0001g0009 a0004c0004t0001g0001 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0083 a0004c0004t0001g0131 a0004c0004t0006g0081 a0005c0005t0003g0035 a0005c0005t0003g0047 a0005c0005t0003g0048 a0005c0005t0003g0097 a0005c0005t0003g0099 a0005c0005t0003g0128 a0005c0005t0003g0129 a0006c0008t0001g0079	422	424	0.9953	-30	c.-30 others(39): Show c.-303_-274delGGATCCTGCTCCAGGTTCCTTCCTCAGGAA		RBP5	ENSG00000139194.8	transcript	ENST00000266560.8	protein_coding					160		chr12	TogoVar
RBPMS_chr8_30379541_30577256	30511478	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02622.hp2 others(9): Show HG02109.hp1 HG02258.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG04184.hp1 HG04204.hp2 NA18942.hp2 NA18961.hp2 NA19054.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0259 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0004g0141 a0001c0001t0007g0020 a0001c0001t0007g0055 a0001c0001t0007g0189 a0001c0001t0008g0097 a0001c0001t0008g0115 a0001c0001t0008g0120 a0001c0001t0008g0297	12	304	0.0395	-30	c.397 others(47): Show c.397+7044_397+7073delAAAAAAAATATATATATATATATATATA TA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511480	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG02895.hp1 others(3): Show HG00738.hp2 HG01361.hp2 HG02895.hp1 NA18943.hp2 NA18981.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0196 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0002g0106 a0001c0001t0002g0289 a0001c0001t0008g0121	6	304	0.0197	-30	c.397 others(47): Show c.397+7046_397+7075delAAAAAATATATATATATATATATATATA TA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511482	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02976.hp2 others(1): Show HG02451.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0001t0001 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0004 a0001c0001t0001g0214 a0001c0001t0010g0269 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0214 a0001c0001t0010g0269 a0001c0001t0018g0003	4	304	0.0132	-30	c.397 others(47): Show c.397+7048_397+7077delAAAATATATATATATATATATATATATA TA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30511484	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	304	0.0033	-30	c.397 others(47): Show c.397+7050_397+7079delAATATATATATATATATATATATATATA TA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078779	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0132 a0001c0001t0001g0062 a0001c0001t0001g0132	2	360	0.0056	-30	c.912 others(45): Show c.912-648_912-619delATATATATATATATATATATATATATATAT		RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13						chr3	TogoVar
RCBTB2_chr13_48483963_48538080	48496810	GGAGGGGA others(23): Show GGAGGGGAGAGGAGGGGAGGGGAGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 NA19043.hp1 others(2): Show HG03453.hp1 NA19030.hp1 NA19043.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0250 a0001c0005t0002g0059 a0001c0005t0002g0060 others(2): Show a0001c0002t0001g0250 a0001c0005t0002g0059 a0001c0005t0002g0060 a0001c0005t0002g0061 a0001c0005t0002g0062	5	320	0.0156	-30	c.138 others(47): Show c.1385-519_1385-490delTCCTCCTCTCCCCTCCCCTCCTCTCCCC TC		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14						chr13	TogoVar
RCOR1_chr14_102587649_102735561	102653949	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0291 a0001c0001t0013g0291	1	292	0.0034	-30	c.362 others(49): Show c.362-27944_362-27915delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RECQL5_chr17_75621854_75672154	75635044	GCCCTGTC others(23): Show GCCCTGTCCTCAAGCCAGCGTTAAAGCCACC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0077 a0001c0004t0001g0077	1	378	0.0027	-30	c.123 others(49): Show c.1230-3406_1230-3377delGGTGGCTTTAACGCTGGCTTGAGGAC AGGG		RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	8/19						chr17	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA19240.hp1 HG02109.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	452	0.0044	-30	c.-13 others(41): Show c.-1373_-1344delATATATATATATATATATATATATATATAT		REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding					1300		chr2	TogoVar
RELN_chr7_103466789_103994658	103924985	TACACATA others(23): Show TACACATACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02809.hp1 HG02109.hp2 HG02717.hp2 HG02809.hp1	a0028 a0031 a0035 a0028 a0031 a0035	a0028c0051 a0031c0034 a0035c0071 a0028c0051 a0031c0034 a0035c0071	a0028c0051t0001 a0031c0034t0001 a0035c0071t0002 a0028c0051t0001 a0031c0034t0001 a0035c0071t0002	a0028c0051t0001g0149 a0031c0034t0001g0121 a0035c0071t0002g0026 a0028c0051t0001g0149 a0031c0034t0001g0121 a0035c0071t0002g0026	3	184	0.0163	-30	c.227 others(47): Show c.227-7830_227-7801delGTGTGTGTGTGTGTGTGTGTGTGTATGT GT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
REM1_chr20_31470288_31489895	31486407	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02027.hp1 HG00558.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	344	0.0058	-30	c.19 others(41): Show c.1978_*2007delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding					1513		chr20	TogoVar
REPS2_chrX_16941658_17158272	16951531	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0136 a0001c0001t0009g0136	1	166	0.0060	-30	c.273 others(47): Show c.273+4399_273+4428delACACACACACACACACACACACACACAC CC		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8432396	AGAGCACA others(23): Show AGAGCACAGCACGAGGCACTGAGTGAACAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0113 a0001c0001t0023g0113	1	204	0.0049	-30	c.120 others(49): Show c.1204-9619_1204-9590delCTTGTTCACTCAGTGCCTCGTGCTGT GCTC		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22						chr1	TogoVar
RERG_chr12_15102783_15226417	15143319	CGTGTGTA others(23): Show CGTGTGTATGTAAATATATACATACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(196): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0003t0001 a0002c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(196): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0250 a0001c0001t0002g0262 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0163 a0001c0001t0003g0275 a0001c0001t0003g0287 a0001c0001t0006g0265 a0001c0001t0006g0299 a0001c0001t0007g0267 a0001c0001t0011g0181 a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0069 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0005g0033 a0001c0002t0005g0151 a0001c0002t0008g0025 a0001c0002t0009g0228 a0001c0003t0001g0133 a0001c0003t0001g0136 a0002c0004t0003g0038	199	300	0.6633	-30	c.62- others(47): Show c.62-22230_62-22201delATGTGTGTATGTATATATTTACATACAC AC		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RETREG2_chr2_219173275_219190475	219188597	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02451.hp1 others(2): Show HG01243.hp2 HG01884.hp1 HG02451.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0024 a0001c0002t0007 a0001c0002t0024	a0001c0002t0007g0001 a0001c0002t0024g0001 a0001c0002t0007g0001 a0001c0002t0024g0001	5	430	0.0116	-30	c.59 others(41): Show c.5969_*5998delTTTTATTTTATTTTATTTTATTTTATTTTA		RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding					3123		chr2	TogoVar
RET_chr10_43072069_43135351	43088202	CGGTGGTG others(23): Show CGGTGGTGGGAATGGTGGTGGTGGAGGCAAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0135 a0001c0001t0001g0144	2	382	0.0052	-30	c.73+ others(47): Show c.73+10880_73+10909delGAATGGTGGTGGTGGAGGCAATGGTGGT GG		RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
REV3L_chr6_111294033_111488218	111484447	CAGCTGGC others(23): Show CAGCTGGCTTGGCTATTAAATTGGAAACAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	288	0.0035	-30	c.-15 others(41): Show c.-1589_-1560delCTTGTTTCCAATTTAATAGCCAAGCCAGCT		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding					1230		chr6	TogoVar
RFC1_chr4_39282456_39371362	39344396	AACAGTAT others(23): Show AACAGTATTCTAAGGCACTATTTTTCAAATT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	276	0.0036	-30	c.208 others(46): Show c.208+975_208+1004delAATTTGAAAAATAGTGCCTTAGAATACTG T		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	3/24						chr4	TogoVar
RFTN1_chr3_16310845_16518699	16463216	GCCTCAAA others(23): Show GCCTCAAACACTGCTTCTGTCTCATTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0040 a0002c0003t0003g0040	1	268	0.0037	-30	c.146 others(49): Show c.146-29209_146-29180delGAGGGAATGAGACAGAAGCAGTGTTT GAGG		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	2/9						chr3	TogoVar
RFX3_chr9_3213297_3531001	3448189	TTCACAGT others(23): Show TTCACAGTGGTTTTAGATATTTTTTTCCCAC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0139 a0001c0001t0035g0139	1	196	0.0051	-30	c.-8- others(47): Show c.-8-52623_-8-52594delGTGGGAAAAAAATATCTAAAACCACTGT GA		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3467066	ATAAGTAT others(23): Show ATAAGTATATATGTATATACATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG02451.hp1 others(2): Show HG00741.hp1 HG01256.hp1 HG02451.hp1 HG02486.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0028	a0001c0001t0004g0075 a0001c0001t0006g0164 a0001c0001t0023g0004 others(2): Show a0001c0001t0004g0075 a0001c0001t0006g0164 a0001c0001t0023g0004 a0001c0001t0023g0072 a0001c0001t0028g0061	5	196	0.0255	-30	c.-9+ others(47): Show c.-9+58651_-9+58680delCATATATGTATGTATATACATATATACT TA		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504921	CATATATT others(23): Show CATATATTATATATAATATATATAATATAAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	196	0.0051	-30	c.-9+ others(47): Show c.-9+20796_-9+20825delATTATATTATATATATTATATATAATAT AT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX8_chr2_101392359_101480112	101394669	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02132.hp2 HG02683.hp2 HG00408.hp1 HG02132.hp2 HG02683.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0013 a0001c0001 a0012c0013	a0001c0001t0001 a0012c0013t0002 a0001c0001t0001 a0012c0013t0002	a0001c0001t0001g0214 a0001c0001t0001g0291 a0012c0013t0002g0092 a0001c0001t0001g0214 a0001c0001t0001g0291 a0012c0013t0002g0092	3	352	0.0085	-30	c.28 others(41): Show c.2849_*2878delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding					2689		chr2	TogoVar
RFX8_chr2_101392359_101480112	101469063	TATGTATA others(23): Show TATGTATATATATATAAGTGTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01358.hp2 others(11): Show HG01257.hp1 HG01258.hp2 HG01358.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG03098.hp2 HG03486.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0008c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0002c0002t0001g0152 a0002c0002t0001g0156 a0003c0003t0001g0153 a0008c0009t0001g0157	14	352	0.0398	-30	c.-52 others(47): Show c.-52-2193_-52-2164delTTATATATATACACTTATATATATATAC AT		RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11						chr2	TogoVar

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