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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Select column to sort.

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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
RAD52_chr12_906736_954694	918575	T T	TTTTTATT others(40): Show TTTTTATTTTTATTTTATTTAATTTTATTTAATTTTTATTTAATTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	400	0.0025	47	c.544 others(64): Show c.544-1756_544-1755insTAAAATTAAATAAAAATTAAATAAAATT AAATAAAATAAAAATAAAA	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	7/11			chr12	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(40): Show TATATATATATATATATATATACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0028 a0011c0022t0028	a0011c0022t0028g0178 a0011c0022t0028g0178	1	292	0.0034	47	c.-27 others(58): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTATATATA TATATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350870	G G	GGGGCGGG others(40): Show GGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGCGGGGGGGGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	342	0.0029	47	c.-56 others(56): Show c.-560_-559insGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGCGG GGGGGGGCGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		384		chr20	TogoVar
RAPGEF6_chr5_131418921_131640229	131634223	G G	GAAACCTC others(40): Show GAAACCTCCAAATCAAGGAAAACCTTCCCCAAAACCTTAGCATTCTAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG02615.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0313 a0001c0001t0012g0314 a0001c0001t0012g0313 a0001c0001t0012g0314	2	324	0.0062	47	c.69+ others(60): Show c.69+692_69+738dupGTAGAATGCTAAGGTTTTGGGGAAGGTTTTCC TTGATTTGGAGGTTT	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	1/27			chr5	TogoVar
RASA3_chr13_113972783_114137623	113974168	T T	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	47	c.51 others(58): Show c.5178_*5179insGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCC AGCCCCGGCCTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3614		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(40): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	306	0.0033	47	c.-35 others(58): Show c.-3577_-3576insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	306	0.0033	47	c.-35 others(58): Show c.-3577_-3576insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	22929467	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAAGAGACAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	330	0.0030	47	c.-41 others(58): Show c.-4196_-4195insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTT AAGAGACAGGCGG	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3860		chr18	TogoVar
RBCK1_chr20_403299_437139	407965	G G	GCCCCGCC others(40): Show GCCCCGCCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0364 a0001c0001t0024g0364	1	452	0.0022	47	c.-79 others(56): Show c.-793_-792insCCCCGCCCCCCCGGCCCCGCCCACCCCGCCTCGCGG CCCCCGGCCCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		333		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7217059	C C	CCCTCCCT others(40): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0042 a0001c0001t0018 a0001c0001t0042	a0001c0001t0018g0052 a0001c0001t0042g0022 a0001c0001t0018g0052 a0001c0001t0042g0022	2	68	0.0294	47	c.27+ others(66): Show c.27+164961_27+164962insCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCTCTCTCCCTCTCCTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02683.hp2 NA18747.hp1 HG02451.hp2 HG02683.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0003g0033 a0001c0001t0003g0085 a0001c0001t0001g0036 a0001c0001t0003g0033 a0001c0001t0003g0085	3	154	0.0195	47	c.-62 others(56): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(40): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03688.hp2 HG03540.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0141 a0001c0003t0003g0240 a0001c0003t0003g0141 a0001c0003t0003g0240	2	276	0.0073	47	c.118 others(66): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM26_chr13_79313868_79411255	79382998	A A	ATTACATT others(40): Show ATTACATTTGTCCAATATATCCTCCAAGGAATGTAACTAAAGCCAGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(319): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.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 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.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 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0005 a0003c0010 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0003t0012 a0001c0003t0014 a0001c0004t0003 a0001c0008t0005 a0001c0009t0003 a0002c0005t0006 a0003c0010t0001 a0004c0006t0010 a0005c0007t0002	a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0007 others(305): Show a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0004g0008 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0099 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0137 a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0007g0020 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0032 a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0056 a0001c0001t0007g0062 a0001c0001t0009g0024 a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0009g0047 a0001c0001t0009g0049 a0001c0001t0009g0052 a0001c0001t0009g0055 a0001c0001t0009g0060 a0001c0001t0010g0005 a0001c0001t0010g0067 a0001c0001t0010g0073 a0001c0001t0010g0074 a0001c0001t0010g0078 a0001c0001t0013g0031 a0001c0001t0013g0063 a0001c0001t0013g0064 a0001c0001t0013g0065 a0001c0001t0015g0104 a0001c0001t0015g0110 a0001c0001t0015g0111 a0001c0001t0015g0166 a0001c0001t0016g0084 a0001c0001t0016g0165 a0001c0001t0016g0167 a0001c0001t0017g0045 a0001c0001t0017g0051 a0001c0001t0020g0066 a0001c0001t0024g0072 a0001c0001t0025g0147 a0001c0001t0027g0076 a0001c0001t0028g0157 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0311 a0001c0002t0003g0001 a0001c0002t0003g0173 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0196 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0211 a0001c0002t0003g0219 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0238 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0263 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0003g0292 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0006g0160 a0001c0002t0008g0013 a0001c0002t0008g0186 a0001c0002t0008g0203 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0296 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0012g0179 a0001c0002t0018g0012 a0001c0002t0019g0175 a0001c0002t0019g0176 a0001c0002t0021g0246 a0001c0002t0022g0261 a0001c0002t0023g0185 a0001c0002t0026g0301 a0001c0003t0012g0177 a0001c0003t0012g0178 a0001c0003t0012g0180 a0001c0003t0012g0291 a0001c0003t0014g0281 a0001c0003t0014g0282 a0001c0003t0014g0283 a0001c0003t0014g0284 a0001c0004t0003g0264 a0001c0004t0003g0265 a0001c0004t0003g0270 a0001c0004t0003g0312 a0001c0004t0003g0313 a0001c0008t0005g0048 a0001c0009t0003g0193 a0002c0005t0006g0140 a0003c0010t0001g0229 a0004c0006t0010g0077 a0005c0007t0002g0108	322	328	0.9817	47	c.72- others(62): Show c.72-4092_72-4091insAACTGGCTTTAGTTACATTCCTTGGAGGAT ATATTGGACAAATGTAA	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RBM26_chr13_79313868_79411255	79383003	A A	ATTTGTCC others(40): Show ATTTGTCCAATATATCCTCCAAGGAATGTAACTAAAGCCAGTTTTACG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	328	0.0031	47	c.72- others(62): Show c.72-4097_72-4096insCGTAAAACTGGCTTTAGTTACATTCCTTGG AGGATATATTGGACAAA	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	1/21			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527324	T T	TATATATA others(40): Show TATATATATATGATATATATATATATATATCATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	320	0.0063	47	c.-21 others(66): Show c.-218-2568_-218-2567insCATATATATATATATATGATATATAT ATATATATATCATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAAAT others(40): Show AAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	390	0.0026	47	c.286 others(64): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATATTTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(40): Show ATAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 HG02698.hp1 others(1): Show HG00558.hp2 HG02040.hp1 HG02698.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 others(1): Show a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0303	4	390	0.0103	47	c.286 others(64): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487498	A A	AATATATA others(40): Show AATATATATATTCATAATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	406	0.0025	47	c.657 others(64): Show c.657+3082_657+3083insATTATGAATATATATATTATGAATATAT ATATTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REG3G_chr2_79020702_79033501	79032549	A A	AGAGAAAA others(40): Show AGAGAAAAACAATGGGAAAAATAATAAAATAAAAAACTGATTTAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	464	0.0022	47	c.42 others(58): Show c.4273_*4274insGAGAAAAACAATGGGAAAAATAATAAAATAAAAA ACTGATTTAAAAG	REG3G	ENSG00000143954.13	transcript	ENST00000272324.10	protein_coding		4049		chr2	TogoVar
RELN_chr7_103466789_103994658	103909616	C C	CAATATAT others(40): Show CAATATATATTAAATATATTTAATAAATATATATATTTAATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	184	0.0054	47	c.337 others(64): Show c.337+7412_337+7458dupTATATATATTAAATATATATATTTATTA AATATATTTAATATATATT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31470610	C C	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02922.hp1 HG03225.hp2 others(3): Show HG02165.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp2 NA18906.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0002c0003 a0010c0011 a0002c0002 a0002c0003 a0010c0011	a0002c0002t0001 a0002c0003t0001 a0010c0011t0003 a0002c0002t0001 a0002c0003t0001 a0010c0011t0003	a0002c0002t0001g0013 a0002c0002t0001g0041 a0002c0002t0001g0104 others(3): Show a0002c0002t0001g0013 a0002c0002t0001g0041 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0003t0001g0025 a0010c0011t0003g0100	6	344	0.0174	47	c.-49 others(58): Show c.-4976_-4975insCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4677		chr20	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(40): Show AAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0003 a0001c0012t0001g0003	1	276	0.0036	47	c.132 others(64): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(40): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03098.hp1 others(1): Show HG02109.hp2 HG02723.hp2 HG03098.hp1 NA18906.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0263 a0003c0006t0001g0265 a0003c0006t0001g0266 others(1): Show a0003c0006t0001g0263 a0003c0006t0001g0265 a0003c0006t0001g0266 a0003c0006t0001g0267	4	276	0.0145	47	c.132 others(64): Show c.132+2923_132+2924insCTTTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296080	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	388	0.0052	47	c.207 others(62): Show c.207+475_207+476insTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296096	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	388	0.0026	47	c.207 others(62): Show c.207+483_207+484insTTCTTTCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296096	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp1 NA20129.hp2 HG01433.hp1 HG01952.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0004g0358 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0004g0358	3	388	0.0077	47	c.207 others(62): Show c.207+479_207+480insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296100	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0342 a0001c0001t0026g0342	1	388	0.0026	47	c.207 others(62): Show c.207+483_207+484insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296100	C C	CTTTCTTT others(40): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0066 a0001c0004t0002g0066	1	388	0.0026	47	c.207 others(62): Show c.207+471_207+472insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0253 a0001c0002t0020g0253	1	388	0.0026	47	c.207 others(62): Show c.207+489_207+490insTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(40): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 HG02647.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0258 a0001c0002t0017g0259 a0001c0002t0017g0258 a0001c0002t0017g0259	2	388	0.0052	47	c.207 others(62): Show c.207+489_207+490insTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02135.hp1 HG03209.hp1 others(3): Show HG00639.hp2 HG02135.hp1 HG03209.hp1 NA18948.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0002t0020 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0020 a0001c0002t0027	a0001c0001t0001g0228 a0001c0001t0001g0336 a0001c0001t0001g0351 others(3): Show a0001c0001t0001g0228 a0001c0001t0001g0336 a0001c0001t0001g0351 a0001c0001t0024g0209 a0001c0002t0020g0208 a0001c0002t0027g0271	6	388	0.0155	47	c.207 others(62): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX3_chr9_3213297_3531001	3504935	A A	ATATATAA others(40): Show ATATATAATATAACATATATTATATATATATAATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	196	0.0051	47	c.-9+ others(64): Show c.-9+20811_-9+20812insATAATATATATTATATTATATATATATA ATATATGTTATATTATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGN_chrX_47073443_47098313	47090909	G G	GAAGAAAG others(40): Show GAAGAAAGAAAGAAGAAAGAAAGAAAGAAGGAAAGAAAGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp1 NA19030.hp2 others(1): Show HG01255.hp1 HG03486.hp1 NA19030.hp2 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0001c0001t0013 a0010c0013t0019 a0001c0001t0001 a0001c0001t0013 a0010c0013t0019	a0001c0001t0001g0256 a0001c0001t0001g0276 a0001c0001t0013g0239 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0276 a0001c0001t0013g0239 a0010c0013t0019g0287	4	304	0.0132	47	c.563 others(62): Show c.563-764_563-763insAGAAAGAAGAAAGAAAGAAAGAAGGAAAGA AAGAAGGAAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD5_chr2_109789305_109862705	109794610	G G	GCCTCGGC others(40): Show GCCTCGGCCCGGCCGGGGGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	40	0.0250	47	c.72+ others(58): Show c.72+73_72+74insCCTCGGCCCGGCCGGGGGGCGGCGGCGGCCTCGG CCCCGGCCCGGCC	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22			chr2	TogoVar
RGS7_chr1_240770514_241362205	241188220	T T	TGTGTCAA others(40): Show TGTGTCAATAATGAAAAAAAGTTAGAGTTTTATATAACTTCTATTATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01261.hp1 others(5): Show HG01071.hp1 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG02129.hp1 HG02523.hp1 HG04115.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0031 a0001c0001t0003g0001 a0001c0001t0009g0085	8	112	0.0714	47	c.79- others(64): Show c.79-89505_79-89459dupTATAATAGAAGTTATATAAAACTCTAAC TTTTTTTCATTATTGACAC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS9_chr17_65132370_65232703	65223752	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	222	0.0045	47	c.140 others(66): Show c.1408-1234_1408-1233insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	RGS9	ENSG00000108370.17	transcript	ENST00000262406.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHCG_chr15_89466407_89501583	89479123	A A	AAAAAAAA others(40): Show AAAAAAAAAACAAGATAAAGAATTCTCAAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01934.hp2 HG01943.hp1 others(12): Show HG00323.hp2 HG01934.hp2 HG01943.hp1 HG02055.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp2 HG02965.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA18957.hp1 NA18962.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0003c0003t0004	a0001c0001t0002g0014 a0001c0001t0003g0126 a0001c0001t0003g0127 others(10): Show a0001c0001t0002g0014 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0139 a0001c0007t0002g0111 a0003c0003t0004g0039 a0003c0003t0004g0294 a0003c0003t0004g0295 a0003c0003t0004g0296 a0003c0003t0004g0297 a0003c0003t0004g0298	15	360	0.0417	47	c.837 others(62): Show c.837+198_837+199insGTTTTGTTTTGTTTTGTTTTTGAGAATTCT TTATCTTGTTTTTTTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RIC1_chr9_5624107_5781557	5675418	T T	TTGAAGAG others(40): Show TTGAAGAGAAACTTAGAACTCCTATCTAACAACTATAAGTAATAAATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	328	0.0031	47	c.253 others(66): Show c.253-14540_253-14494dupTGAAGAGAAACTTAGAACTCCTATCT AACAACTATAAGTAATAAATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130498098	G G	GGTCATTC others(40): Show GGTCATTCTCCATGAAGGCAGCACTGACTCCAGGCCTCCGGCTGCCCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01891.hp2 others(17): Show HG01074.hp2 HG01109.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0016	a0001c0001 a0001c0002 a0001c0019 others(14): Show a0001c0001 a0001c0002 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0032 a0001c0036 a0002c0009 a0002c0010 a0002c0016 a0002c0023 a0002c0026 a0003c0030 a0004c0040 a0012c0035 a0016c0031	a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 a0001c0020t0001 a0001c0022t0001 a0001c0024t0001 a0001c0032t0001 a0001c0036t0001 a0002c0009t0001 a0002c0010t0001 a0002c0016t0001 a0002c0023t0001 a0002c0026t0001 a0003c0030t0002 a0004c0040t0001 a0012c0035t0001 a0016c0031t0002	a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0002t0001g0054 others(17): Show a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0002t0001g0054 a0001c0019t0001g0089 a0001c0020t0001g0118 a0001c0020t0001g0140 a0001c0022t0001g0101 a0001c0024t0001g0170 a0001c0032t0001g0026 a0001c0036t0001g0094 a0002c0009t0001g0174 a0002c0010t0001g0027 a0002c0010t0001g0122 a0002c0016t0001g0124 a0002c0023t0001g0016 a0002c0026t0001g0117 a0003c0030t0002g0137 a0004c0040t0001g0171 a0012c0035t0001g0102 a0016c0031t0002g0097	20	180	0.1111	47	c.-4+ others(62): Show c.-4+8549_-4+8550insTGGGCAGCCGGAGGCCTGGAGTCAGTGCTG CCTTCATGGAGAATGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCAGCCCAGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02486.hp1 others(7): Show HG01346.hp1 HG01891.hp2 HG02486.hp1 HG02559.hp2 HG02886.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 NA18986.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0009 a0004c0041 a0016c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0007t0001 a0002c0009t0001 a0004c0041t0003 a0016c0031t0002	a0001c0001t0001g0119 a0001c0002t0001g0054 a0001c0002t0001g0095 others(7): Show a0001c0001t0001g0119 a0001c0002t0001g0054 a0001c0002t0001g0095 a0001c0003t0001g0058 a0001c0003t0001g0150 a0001c0004t0002g0003 a0001c0007t0001g0149 a0002c0009t0001g0174 a0004c0041t0003g0068 a0016c0031t0002g0097	10	180	0.0556	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCTGG GCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(17): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02083.hp1 HG02258.hp2 HG03471.hp1 HG03471.hp2 HG04228.hp2 HG06807.hp2 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0028 a0002c0009 a0004c0039 a0005c0013 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0009 a0001c0006t0001 a0001c0008t0001 a0001c0028t0001 a0002c0009t0001 a0004c0039t0001 a0005c0013t0003 a0007c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0002t0001g0021 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0002t0001g0021 a0001c0002t0001g0074 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0148 a0001c0005t0001g0032 a0001c0005t0001g0085 a0001c0005t0001g0165 a0001c0005t0009g0157 a0001c0006t0001g0033 a0001c0006t0001g0042 a0001c0008t0001g0176 a0001c0028t0001g0114 a0002c0009t0001g0100 a0004c0039t0001g0132 a0005c0013t0003g0141 a0007c0017t0001g0055 a0007c0017t0001g0056	20	180	0.1111	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0013 a0001c0006 a0005c0013	a0001c0006t0001 a0005c0013t0003 a0001c0006t0001 a0005c0013t0003	a0001c0006t0001g0061 a0005c0013t0003g0175 a0001c0006t0001g0061 a0005c0013t0003g0175	2	180	0.0111	47	c.-35 others(68): Show c.-351-12883_-351-12837dupCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCGGCCCGGCATGACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0050 a0001c0001 a0011c0050	a0001c0001t0001 a0011c0050t0001 a0001c0001t0001 a0011c0050t0001	a0001c0001t0001g0146 a0011c0050t0001g0104 a0001c0001t0001g0146 a0011c0050t0001g0104	2	180	0.0111	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTCATGCCGG GCCGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0039 a0001c0005 a0004c0039	a0001c0005t0001 a0004c0039t0001 a0001c0005t0001 a0004c0039t0001	a0001c0005t0001g0165 a0004c0039t0001g0132 a0001c0005t0001g0165 a0004c0039t0001g0132	2	180	0.0111	47	c.-35 others(68): Show c.-351-12912_-351-12866dupAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641415	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02683.hp2 HG03139.hp1 HG03195.hp1 HG03834.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0006 a0004c0040 others(1): Show a0001c0002 a0001c0006 a0004c0040 a0013c0046	a0001c0002t0002 a0001c0006t0001 a0004c0040t0001 others(1): Show a0001c0002t0002 a0001c0006t0001 a0004c0040t0001 a0013c0046t0004	a0001c0002t0002g0017 a0001c0006t0001g0009 a0004c0040t0001g0171 others(1): Show a0001c0002t0002g0017 a0001c0006t0001g0009 a0004c0040t0001g0171 a0013c0046t0004g0167	4	180	0.0222	47	c.-35 others(68): Show c.-351-12960_-351-12959insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641462	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0014 a0014	a0014c0045 a0014c0045	a0014c0045t0001 a0014c0045t0001	a0014c0045t0001g0035 a0014c0045t0001g0035	1	180	0.0056	47	c.-35 others(68): Show c.-351-13007_-351-13006insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641509	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02451.hp2 NA19084.hp2 others(2): Show HG01256.hp1 HG02451.hp2 NA19084.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0001c0019 a0001c0021	a0001c0001t0005 a0001c0006t0001 a0001c0008t0001 others(2): Show a0001c0001t0005 a0001c0006t0001 a0001c0008t0001 a0001c0019t0001 a0001c0021t0001	a0001c0001t0005g0006 a0001c0006t0001g0061 a0001c0008t0001g0050 others(2): Show a0001c0001t0005g0006 a0001c0006t0001g0061 a0001c0008t0001g0050 a0001c0019t0001g0023 a0001c0021t0001g0014	5	180	0.0278	47	c.-35 others(68): Show c.-351-13054_-351-13053insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS2_chr8_103495610_104259430	103587468	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	172	0.0058	47	c.177 others(66): Show c.177-64734_177-64733insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF130_chr5_179950067_180076759	180015583	G G	GGGAAAGG others(40): Show GGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02723.hp1 others(9): Show HG02451.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 others(9): Show a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	12	340	0.0353	47	c.443 others(64): Show c.443-2319_443-2273dupTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTCCCTACTCCTTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18984.hp1 NA19091.hp2 HG01192.hp2 NA18984.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0275 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0275	3	374	0.0080	47	c.-48 others(64): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar

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Search Results (Total: 1792 hits)