Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NRCAM_chr7_108142649_108461436	108177629	ATATATAT others(85): Show ATATATATATATATATATATATATATATATATGTATATACGTGTATATAT ATACGTGTATATATATATACACGTATATATATATATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18987.hp1 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0006 a0002c0008 a0002c0023 a0002c0026 a0005c0027 a0008c0020 a0009c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0012 a0001c0002t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0002c0005t0002 a0002c0005t0003 a0002c0005t0015 a0002c0006t0003 a0002c0008t0003 a0002c0008t0004 a0002c0008t0010 a0002c0023t0002 a0002c0026t0012 a0005c0027t0001 a0008c0020t0001 a0009c0028t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(112): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0109 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0091 a0001c0002t0001g0115 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0204 a0001c0002t0012g0130 a0001c0002t0014g0001 a0001c0004t0001g0105 a0001c0004t0002g0090 a0001c0004t0002g0112 a0001c0004t0002g0160 a0001c0004t0002g0169 a0001c0004t0002g0174 a0001c0004t0002g0175 a0001c0004t0002g0176 a0001c0004t0002g0177 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0186 a0001c0004t0002g0193 a0001c0004t0002g0194 a0001c0004t0002g0197 a0001c0004t0002g0198 a0001c0004t0002g0199 a0001c0004t0004g0099 a0001c0004t0004g0205 a0002c0005t0002g0106 a0002c0005t0002g0207 a0002c0005t0003g0007 a0002c0005t0003g0016 a0002c0005t0003g0058 a0002c0005t0003g0067 a0002c0005t0003g0074 a0002c0005t0003g0098 a0002c0005t0003g0146 a0002c0005t0003g0147 a0002c0005t0003g0153 a0002c0005t0003g0159 a0002c0005t0003g0161 a0002c0005t0003g0165 a0002c0005t0003g0187 a0002c0005t0003g0190 a0002c0005t0003g0195 a0002c0005t0015g0002 a0002c0006t0003g0166 a0002c0008t0003g0035 a0002c0008t0003g0084 a0002c0008t0003g0094 a0002c0008t0003g0095 a0002c0008t0003g0096 a0002c0008t0004g0093 a0002c0008t0010g0004 a0002c0008t0010g0005 a0002c0023t0002g0038 a0002c0026t0012g0009 a0005c0027t0001g0150 a0008c0020t0001g0180 a0009c0028t0001g0010	115	208	0.5529	-92	c.297 others(109): Show c.2974+269_2974+360delCACACGTATATATATATATACGTGTATA TATATATACACGTATATATATACACGTATATACATATATATATATATATA TATATATATATATA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	26/32			chr7	TogoVar
NTM_chr11_131365615_132341822	131598800	TTTCTTTC others(85): Show TTTCTTTCTTTCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01169.hp1 HG01243.hp2 others(9): Show HG01071.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG01993.hp1 HG01993.hp2 HG02280.hp2 HG02602.hp1 HG04228.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0009g0015 a0001c0001t0014g0080 a0001c0002t0001g0027 a0001c0002t0003g0073	12	86	0.1395	-92	c.82+ others(111): Show c.82+227916_82+228007delTTTCTTTCTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTC CTTCCTTCCTTCCTTC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	806142	GCTCCCCA others(85): Show GCTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACAACCCCCTC CCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACAACCCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02965.hp1 NA18955.hp2 others(5): Show HG00621.hp1 HG02965.hp1 NA18955.hp2 NA18971.hp2 NA18983.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 others(1): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025	a0001c0001t0004g0039 a0001c0001t0004g0096 a0001c0001t0004g0129 others(5): Show a0001c0001t0004g0039 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0018g0005 a0001c0001t0020g0164 a0001c0001t0025g0200	8	242	0.0331	-92	c.821 others(107): Show c.821-987_821-896delGGGGTTGTGCTGGGGTGCAGACGGCGGGGG CTGCAGCCCTGGGGAGGGGGTTGTGCTGGGGTGCAGACGGCGGGGGCTGC AGCCCTGGGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
ODF3_chr11_191761_205258	196483	ACATGGGG others(85): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGA GGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	2	388	0.0052	-92	c.-57 others(101): Show c.-571_-480delCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTG AGGAGG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		277		chr11	TogoVar
OPCML_chr11_132409981_133537501	133458236	GTATATAT others(85): Show GTATATATACACATATATATACACGTGTGTGTATATATACACACATATAT ACACGTGTGTGTATATATATACACATATATACACGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01258.hp2 HG01071.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0042 a0001c0001t0004g0018 a0001c0001t0002g0042 a0001c0001t0004g0018	2	68	0.0294	-92	c.61+ others(109): Show c.61+73936_61+74027delTACACACACGTGTATATATGTGTATATA TATACACACACGTGTATATATGTGTGTATATATACACACACGTGTATATA TATGTGTATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
P2RY10_chrX_78940391_78968727	78965737	CTTCCTTT others(85): Show CTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCTTTTTTCTTTCTTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	2	322	0.0062	-92	c.41 others(103): Show c.4198_*4289delTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTTTCTTTCTT TTCTTTCT	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2011		chrX	TogoVar
PACRG_chr6_162722974_163320500	163269849	GAAAGAAA others(85): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp2 HG02886.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0003g0025 a0001c0001t0001g0053 a0001c0001t0003g0025	2	130	0.0154	-92	c.614 others(111): Show c.614-44976_614-44885delAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAACAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(85): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	130	0.0077	-92	c.614 others(111): Show c.614-44972_614-44881delAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA CAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105364370	GGGCGTCC others(85): Show GGGCGTCCCGGGTGCGCGGTGGGCGGTGTCCCGGGTGCGCGGTGGGCGGT GTCCCGGGTGCGCGGTGGGCGGCGTCCCGGGTGCGCGGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	210	0.0048	-92	c.424 others(109): Show c.424-2820_424-2729delCGGTGTCCCGGGTGCGCGGTGGGCGGTG TCCCGGGTGCGCGGTGGGCGGCGTCCCGGGTGCGCGGTGGGCGGCGTCCC GGGTGCGCGGTGGG	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALLD_chr4_168492052_168933441	168577714	CAAGAGTA others(85): Show CAAGAGTAGAGAGGCAATTTGGAAACTGAAAGAAAGGCTAAATTGACCAT TACGCAAAAGAGGCCACCAGTTCCAGGGACTTTTGGAGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp2 NA20129.hp1 HG02922.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0010 a0001c0001t0001 a0001c0001t0004 a0001c0002t0010	a0001c0001t0001g0080 a0001c0001t0004g0087 a0001c0002t0010g0099 a0001c0001t0001g0080 a0001c0001t0004g0087 a0001c0002t0010g0099	3	156	0.0192	-92	c.908 others(111): Show c.908+65303_908+65394delAAGAGTAGAGAGGCAATTTGGAAACT GAAAGAAAGGCTAAATTGACCATTACGCAAAAGAGGCCACCAGTTCCAGG GACTTTTGGAGGACCT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21			chr4	TogoVar
PCBP3_chr21_45638725_45947450	45815647	TGGTGAGT others(85): Show TGGTGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAG TGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAG	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	292	0.0034	-92	c.-12 others(113): Show c.-125-34313_-125-34222delGGTGAGTGGTGAGTGGTGAGTGAT GAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTGATGAG TGGTGAGTGGTGAGTGAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17			chr21	TogoVar
PCID2_chr13_113172536_113213669	113200681	GGTAAACA others(85): Show GGTAAACAATAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 HG03471.hp2 others(1): Show HG01884.hp2 HG02886.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0188 a0001c0002t0004g0185 a0001c0002t0004g0186 others(1): Show a0001c0001t0003g0188 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187	4	414	0.0097	-92	c.37- others(105): Show c.37-257_37-166delGATTGCGCCACTGCAGTCCGCAGTCCGACCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAT TATTGTTTAC	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding	1/13			chr13	TogoVar
PDE6B_chr4_620573_675782	635302	CGCCTGCC others(85): Show CGCCTGCCCGCGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCC TGCCTGCCCGCGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01975.hp2 HG02647.hp1 others(6): Show HG01255.hp2 HG01975.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0271 others(6): Show a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0271 a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0276 a0002c0003t0005g0277	9	308	0.0292	-92	c.621 others(107): Show c.621+483_622-477delCGTGTTCTGTGCTGTGCGTCCACCTCCTTA CCTGCCTGCCTGCCTGCCCGCGTGTTCTGTGCCACGCGTCTGCCTCCCTG CCTGCCTGCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635312	CGTGTTCT others(85): Show CGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCCTGCCTGCCCG CGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCTGCCTGCCCGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02630.hp2 others(2): Show HG01891.hp1 HG02622.hp1 HG02630.hp2 NA18522.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0011 a0001c0001 a0001c0009 a0005c0011	a0001c0001t0005 a0001c0009t0009 a0005c0011t0001 a0001c0001t0005 a0001c0009t0009 a0005c0011t0001	a0001c0001t0005g0265 a0001c0009t0009g0263 a0001c0009t0009g0264 others(2): Show a0001c0001t0005g0265 a0001c0009t0009g0263 a0001c0009t0009g0264 a0005c0011t0001g0266 a0005c0011t0001g0267	5	308	0.0162	-92	c.622 others(107): Show c.622-520_622-429delCGCGTGTTCTGTGCCACGCGTCTGCCTCCC TGCCTGCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTGCC TGCCTGCCTGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635360	CGCGTGTT others(85): Show CGCGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCTGCCTGCCCGTGTGTT CTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCCTGCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0113 a0001c0008t0002g0113	1	308	0.0033	-92	c.622 others(107): Show c.622-428_622-337delTGCGTGTTCTGTGCCACGCGTCTGCCTCCC TGCCTGCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTGCC TGCCTGCCTGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635452	TGCGTGTT others(85): Show TGCGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCTGCCTGCCCGTGTGTT CTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCCTGCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	308	0.0033	-92	c.622 others(107): Show c.622-384_622-293delTGTGTTCTGTGCTGTGCGTCCACCTCCTTA CCTGCCTGCCTGCCTGCCCGCGTGTTCTGTGCCACGCGTCTGCCTCCCTG CCTGCCTGCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	657604	ATCCAGGG others(85): Show ATCCAGGGGTCACCCAGGGGTCACGGCTGTGCGGTGGGGGCAGGTCGTCC AGGGGTCACCCAGGGGTCACGGCTGTGCGGTGGGGGCAGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0085 a0001c0004t0001g0085	1	308	0.0033	-92	c.140 others(109): Show c.1401+134_1401+225delGGCTGTGCGGTGGGGGCAGGTCGTCCAG GGGTCACCCAGGGGTCACGGCTGTGCGGTGGGGGCAGGTCGTCCAGGGGT CACCCAGGGGTCAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFC_chr4_156755454_156976799	156759518	AGTCAATG others(85): Show AGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACCATGGT CAATGCACCTGGAGACAGGGATGCACCGAGGGACCAAACCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG02683.hp1 others(22): Show HG02155.hp2 HG02280.hp1 HG02683.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp1 NA18950.hp2 NA18952.hp2 NA18961.hp1 NA18964.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp2 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025	a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0051 others(22): Show a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0115 a0001c0002t0002g0139 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0070 a0001c0002t0005g0122 a0001c0002t0006g0082 a0001c0002t0025g0081	25	208	0.1202	-92	c.34 others(103): Show c.3480_*3571delCGTGGTTTGGTCCCTCGGTGCATCCCTGTCTCCA GGTGCATTGACCATGGTTTGGTTACCCTCGGTGCATCCCTGTCTCCAGGT GCATTGAC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		935		chr4	TogoVar
PDZRN4_chr12_41183320_41579745	41402318	ATATACAC others(85): Show ATATACACACACTGTGTGTATATATATATATACACACAGTGTGTATATAT ATATATACACACACTGTGTATATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0033 a0006c0007t0003g0033	1	206	0.0049	-92	c.844 others(113): Show c.844-104133_844-104042delCACACACTGTGTGTATATATATAT ATACACACAGTGTGTATATATATATATACACACACTGTGTATATATATAT ATACACACAGTGTGTATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	977224	CCAACCCC others(85): Show CCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT GCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(43): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02155.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18950.hp1 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18980.hp2 NA19000.hp2 NA19054.hp2 NA19070.hp1 NA20805.hp1 NA21309.hp2	a0003 a0004 a0012 a0003 a0004 a0012	a0003c0003 a0003c0016 a0003c0022 others(2): Show a0003c0003 a0003c0016 a0003c0022 a0004c0025 a0012c0019	a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 others(3): Show a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 a0003c0022t0004 a0004c0025t0004 a0012c0019t0001	a0003c0003t0004g0009 a0003c0003t0004g0014 a0003c0003t0004g0015 others(29): Show a0003c0003t0004g0009 a0003c0003t0004g0014 a0003c0003t0004g0015 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0051 a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0062 a0003c0003t0004g0063 a0003c0003t0004g0064 a0003c0003t0004g0065 a0003c0003t0004g0066 a0003c0003t0004g0067 a0003c0003t0004g0068 a0003c0003t0004g0069 a0003c0003t0004g0071 a0003c0003t0004g0072 a0003c0003t0004g0073 a0003c0003t0004g0078 a0003c0003t0004g0079 a0003c0003t0004g0236 a0003c0003t0020g0070 a0003c0016t0004g0075 a0003c0016t0004g0076 a0003c0022t0004g0077 a0004c0025t0004g0060 a0012c0019t0001g0082	46	408	0.1128	-92	c.215 others(109): Show c.2150-692_2150-601delCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAGGC GGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAM5_chr12_132705842_132727734	132718391	GGTCCTGA others(85): Show GGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGT GCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	394	0.0025	-92	c.719 others(107): Show c.719+278_719+369delAGTGGGGTGCGTGCTGGGTGGGGGTGTCCT GGGTGGGGTGTGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGT GGGGGTGTCCTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR2_chr6_143672965_143836185	143771131	CATATATA others(85): Show CATATATATATATGTATATATATATATGTATATATATATATATGTATATA TATATATATGTGTGTATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0085 a0001c0001t0011g0085	1	310	0.0032	-92	c.123 others(111): Show c.1233-1113_1233-1022delTATATATATATATGTATATATATATA TATGTATATATATATATATGTGTGTATATATATATATATATATATATATA TATATATATATATATG	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF20_chr20_35767015_35955370	35906443	ATTGTTCC others(85): Show ATTGTTCCACCAGGCTCTAAAGGTCCCTGGGCCTTGCTTTCTCCCCGTTT TTCCACCAGGATCTGAAGGTCCCTGGGCCTTGCTTTCTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	206	0.0049	-92	c.156 others(111): Show c.1562-6788_1562-6697delAAAGGTCCCTGGGCCTTGCTTTCTCC CCGTTTTTCCACCAGGATCTGAAGGTCCCTGGGCCTTGCTTTCTCCCCGT TGTTCCACCAGGCTCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PKP3_chr11_389209_409908	401716	CACCCCCG others(85): Show CACCCCCGACCCCGCTCACCCCCGACCCCGCTCACCCCCGCCCCGCTCAC CCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0196 a0001c0008t0001g0196	1	216	0.0046	-92	c.173 others(111): Show c.1737+1019_1737+1110delACCCCGCTCACCCCCGACCCCGCTCA CCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGC TCACCCCCGACCCCCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLD5_chr1_242077986_242529697	242225435	CCTTTGCT others(85): Show CCTTTGCTGTTGAGTGATATTTCATGGTATGGAATGCACCACACATAACG CATGTGAGACCCATTCATGCTGTCATGTGGAACAGTGGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0137 a0001c0002t0070g0137	1	188	0.0053	-92	c.608 others(109): Show c.608-5412_608-5321delAGAAACCACTGTTCCACATGACAGCATG AATGGGTCTCACATGCGTTATGTGTGGTGCATTCCATACCATGAAATATC ACTCAACAGCAAAG	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	4/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394433	AGTATATA others(85): Show AGTATATATGTGTGTATATGAGTATATATGTGAACATATATATGTGTATA TATGTGAACATATATATGTGTATATATGTGAACATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	188	0.0053	-92	c.190 others(111): Show c.190-46283_190-46192delACATATATATGTTCACATATATACAC ATATATATGTTCACATATATACACATATATATGTTCACATATATACTCAT ATACACACATATATAC	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977224	CCAACCCC others(85): Show CCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT GCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp1 others(43): Show HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp2 HG02155.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp1 NA18939.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18980.hp2 NA19000.hp1 NA19054.hp1 NA19070.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0012	a0001c0001 a0001c0012 a0002c0002 others(14): Show a0001c0001 a0001c0012 a0002c0002 a0002c0017 a0002c0049 a0003c0003 a0003c0005 a0003c0019 a0003c0023 a0004c0004 a0005c0014 a0005c0025 a0005c0027 a0005c0046 a0005c0051 a0008c0016 a0012c0035	a0001c0001t0004 a0001c0001t0011 a0001c0012t0001 others(23): Show a0001c0001t0004 a0001c0001t0011 a0001c0012t0001 a0002c0002t0004 a0002c0002t0024 a0002c0002t0025 a0002c0017t0025 a0002c0049t0004 a0003c0003t0001 a0003c0003t0004 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0005t0035 a0003c0019t0004 a0003c0019t0008 a0003c0023t0004 a0003c0023t0037 a0004c0004t0004 a0005c0014t0004 a0005c0025t0004 a0005c0027t0004 a0005c0046t0004 a0005c0051t0004 a0008c0016t0004 a0012c0035t0004	a0001c0001t0004g0001 a0001c0001t0011g0134 a0001c0012t0001g0045 others(32): Show a0001c0001t0004g0001 a0001c0001t0011g0134 a0001c0012t0001g0045 a0002c0002t0004g0135 a0002c0002t0024g0117 a0002c0002t0024g0130 a0002c0002t0025g0062 a0002c0017t0025g0007 a0002c0049t0004g0077 a0003c0003t0001g0008 a0003c0003t0004g0012 a0003c0005t0001g0008 a0003c0005t0001g0091 a0003c0005t0004g0010 a0003c0005t0004g0025 a0003c0005t0004g0052 a0003c0005t0004g0103 a0003c0005t0008g0018 a0003c0005t0008g0078 a0003c0005t0035g0060 a0003c0019t0004g0079 a0003c0019t0004g0081 a0003c0019t0008g0068 a0003c0023t0004g0004 a0003c0023t0037g0004 a0004c0004t0004g0128 a0005c0014t0004g0012 a0005c0014t0004g0030 a0005c0014t0004g0131 a0005c0025t0004g0031 a0005c0027t0004g0031 a0005c0046t0004g0118 a0005c0051t0004g0070 a0008c0016t0004g0014 a0012c0035t0004g0063	46	422	0.1090	-92	c.26 others(103): Show c.2650_*2741delCAACCCCGGGAACCGCCTCCCACCACCCCGCCAA CCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1360		chr1	TogoVar
PPA1_chr10_70197835_70238429	70220625	ATATATAT others(85): Show ATATATATATAATATATATAATTTATATATATATTATATATAATTTATAT ATATATAATATATATAATTTATATATATATAATATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02818.hp2 others(5): Show HG02280.hp2 HG02451.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 NA19012.hp2 NA19058.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0003t0004g0040 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045	8	408	0.0196	-92	c.124 others(109): Show c.124-1900_124-1809delAATTATATATATTATATATATATAAATT ATATATATTATATATATATAAATTATATATAATATATATATAAATTATAT ATATTATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPP2R3B_chrX_328933_391907	353975	ACCCAAAG others(85): Show ACCCAAAGACCAGGGCTCATCCAAAGACCGGGGCTCACCCAGGGAGCAGG GGCTCGCCCAGGGACCAGGGGCTCACCCAAAGACCGGGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	-92	c.511 others(109): Show c.511-6374_511-6283delCGAGCCCCGGTCTTTGGGTGAGCCCCTG GTCCCTGGGCGAGCCCCTGCTCCCTGGGTGAGCCCCGGTCTTTGGATGAG CCCTGGTCTTTGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PRDM15_chr21_41793225_41884344	41814362	CGTGTTAG others(85): Show CGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTGAGAATGCCTTGTGT TAGTGATTGCACAGGGTGCTCTAGTGTTTTATGAGAACGACTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(63): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18948.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0001c0006 a0001c0014 others(9): Show a0001c0004 a0001c0006 a0001c0014 a0001c0020 a0001c0021 a0001c0027 a0001c0037 a0002c0007 a0002c0015 a0002c0024 a0002c0046 a0008c0051	a0001c0004t0003 a0001c0006t0005 a0001c0014t0003 others(14): Show a0001c0004t0003 a0001c0006t0005 a0001c0014t0003 a0001c0014t0023 a0001c0020t0004 a0001c0020t0005 a0001c0020t0021 a0001c0021t0003 a0001c0027t0005 a0001c0027t0048 a0001c0037t0003 a0002c0007t0005 a0002c0007t0046 a0002c0015t0005 a0002c0024t0005 a0002c0046t0040 a0008c0051t0003	a0001c0004t0003g0004 a0001c0004t0003g0031 a0001c0004t0003g0104 others(62): Show a0001c0004t0003g0004 a0001c0004t0003g0031 a0001c0004t0003g0104 a0001c0004t0003g0107 a0001c0004t0003g0139 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0208 a0001c0004t0003g0209 a0001c0004t0003g0211 a0001c0004t0003g0212 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0241 a0001c0004t0003g0264 a0001c0004t0003g0266 a0001c0004t0003g0294 a0001c0004t0003g0317 a0001c0004t0003g0352 a0001c0004t0003g0355 a0001c0004t0003g0359 a0001c0004t0003g0360 a0001c0004t0003g0367 a0001c0004t0003g0370 a0001c0004t0003g0373 a0001c0004t0003g0374 a0001c0006t0005g0002 a0001c0006t0005g0039 a0001c0006t0005g0041 a0001c0014t0003g0123 a0001c0014t0003g0335 a0001c0014t0003g0346 a0001c0014t0023g0156 a0001c0014t0023g0157 a0001c0020t0004g0331 a0001c0020t0005g0297 a0001c0020t0021g0255 a0001c0021t0003g0213 a0001c0021t0003g0239 a0001c0027t0005g0256 a0001c0027t0048g0263 a0001c0037t0003g0007 a0002c0007t0005g0051 a0002c0007t0005g0124 a0002c0007t0005g0131 a0002c0007t0005g0133 a0002c0007t0005g0134 a0002c0007t0005g0140 a0002c0007t0005g0198 a0002c0007t0005g0210 a0002c0007t0005g0222 a0002c0007t0005g0233 a0002c0007t0005g0259 a0002c0007t0005g0336 a0002c0007t0046g0128 a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0015t0005g0401 a0002c0015t0005g0402 a0002c0024t0005g0055 a0002c0024t0005g0181 a0002c0046t0040g0125 a0008c0051t0003g0196	66	406	0.1626	-92	c.239 others(111): Show c.2392+1251_2392+1342delAAGTCGTTCTCATAAAACACTAGAGC ACCCTGTGCAATCACTAACACAAGGCATTCTCAAAACACTAGAGCACCCT GCGCAATCACTAACAC	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRKD1_chr14_29571479_29932847	29582323	ATTCTACT others(85): Show ATTCTACTTGTCTTAAATACCTTGGTATCTCTCTCATTTTATCGAGCTTC TTGTTGAATAATTTCAGAATCCATTCTTTCCCCCTTTTAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG03516.hp2 HG02055.hp2 HG02109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0002g0111 a0001c0001t0010g0011 a0001c0002t0002g0020 a0001c0001t0002g0111 a0001c0001t0010g0011 a0001c0002t0002g0020	3	156	0.0192	-92	c.243 others(111): Show c.2435-4055_2435-3964delCTTCTAAAAGGGGGAAAGAATGGATT CTGAAATTATTCAACAAGAAGCTCGATAAAATGAGAGAGATACCAAGGTA TTTAAGACAAGTAGAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	16/17			chr14	TogoVar
PRKG1_chr10_51069487_52303350	51553860	TAATATAT others(85): Show TAATATATGTATGTATTAGATACGTGTATATAATATATGTATGTATTAGA TACGTGTATATAATATATGTATGTATTAGATACGTGTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02922.hp2 HG02109.hp1 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0009 a0001c0001t0005g0018 a0001c0001t0008g0004 a0001c0001t0003g0009 a0001c0001t0005g0018 a0001c0001t0008g0004	3	64	0.0469	-92	c.592 others(111): Show c.592+86025_592+86116delAATATATGTATGTATTAGATACGTGT ATATAATATATGTATGTATTAGATACGTGTATATAATATATGTATGTATT AGATACGTGTATATAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17			chr10	TogoVar
PTGFR_chr1_78485974_78545701	78532390	ATATATAT others(85): Show ATATATATGTATATATGTGTATATATATGTGTGTATATATGTGTATATAT TTGTGTGTGTATATGTGTATATATTTGTGTGTGTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	386	0.0026	-92	c.799 others(109): Show c.799-4014_799-3923delATATATGTATATATGTGTATATATATGT GTGTATATATGTGTATATATTTGTGTGTGTATATGTGTATATATTTGTGT GTGTATATATGTGT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132398922	CCCCCAGT others(85): Show CCCCCAGTCCTGAGGCTTGTCCTGGAAGGACCCCTGCCCCCTCCCTCATC TCCCCTGTGCCTGAGTCTGTCCGGCTGTTCTCCTCTCCCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(58): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01993.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03579.hp2 HG03942.hp1 NA18522.hp1 NA18951.hp1 NA18954.hp1 NA18961.hp1 NA18967.hp1 NA18983.hp1 NA18984.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0007 a0001c0009 others(7): Show a0001c0001 a0001c0007 a0001c0009 a0002c0002 a0002c0003 a0003c0004 a0003c0005 a0004c0006 a0005c0012 a0006c0024	a0001c0001t0001 a0001c0007t0001 a0001c0009t0001 others(8): Show a0001c0001t0001 a0001c0007t0001 a0001c0009t0001 a0001c0009t0006 a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0012t0001 a0006c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0033 others(46): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0247 a0001c0007t0001g0031 a0001c0007t0001g0077 a0001c0007t0001g0250 a0001c0009t0001g0021 a0001c0009t0001g0074 a0001c0009t0001g0116 a0001c0009t0006g0021 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0089 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0106 a0002c0002t0001g0119 a0002c0002t0001g0131 a0002c0003t0001g0032 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0128 a0003c0004t0001g0117 a0003c0004t0001g0120 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0005t0001g0249 a0004c0006t0001g0030 a0004c0006t0001g0062 a0004c0006t0001g0065 a0004c0006t0001g0073 a0005c0012t0001g0005 a0005c0012t0001g0078 a0006c0024t0001g0031	61	374	0.1631	-92	c.125 others(109): Show c.125+1605_125+1696delTGCCCCCTCCCTCATCTCCCCTGTGCCT GAGTCTGTCCGGCTGTTCTCCTCTCCCCCAGCCCCAGTCCTGAGGCTTGT CCTGGAAGGACCCC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132398979	TGCCTGAG others(85): Show TGCCTGAGTCTGTCCGGCTGTTCTCCTCTCCCCCAGCCCCAGTCCTGAGG CTTGTCCTGGAAGGACCCCCGCCCCCTCCCTCATCTCCCCTGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp2 HG02132.hp2 HG00438.hp1 HG01496.hp2 HG02132.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0004c0006t0001g0067 a0001c0001t0001g0133 a0001c0001t0001g0134 a0004c0006t0001g0067	3	374	0.0080	-92	c.125 others(109): Show c.125+1639_125+1730delGTCCGGCTGTTCTCCTCTCCCCCAGCCC CAGTCCTGAGGCTTGTCCTGGAAGGACCCCCGCCCCCTCCCTCATCTCCC CTGAGCCTGAGTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492424	TCCCCGGG others(85): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19079.hp1 HG01074.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0005 a0001c0001t0012g0189 a0001c0001t0002g0005 a0001c0001t0012g0189	2	295	0.0068	-92	c.126 others(111): Show c.1265+3425_1265+3516delCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7029112	ACACACAC others(85): Show ACACACACACATATACGTATATATATATGTGTATATATGTATATATATAC ACATATATATACGTATACGTGTATATATACACATATGTATACG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03831.hp1 HG03540.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0044 a0001c0001t0040g0064 a0001c0001t0002g0044 a0001c0001t0040g0064	2	68	0.0294	-92	c.-15 others(111): Show c.-15-22944_-15-22853delCACACACACATATACGTATATATATA TGTGTATATATGTATATATATACACATATATATACGTATACGTGTATATA TACACATATGTATACG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RELB_chr19_44996464_45043192	45023915	TAATTTTT others(85): Show TAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGTCAGGCT GATCTCAAAATTCTGACCTTGTGACCCACCCGCCTCGGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(275): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 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 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(274): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0002g0036 a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0148 a0001c0001t0002g0195 a0001c0001t0002g0225 a0001c0001t0002g0254 a0001c0001t0002g0283 a0001c0001t0002g0300 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0356 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0188 a0001c0001t0003g0231 a0001c0001t0003g0253 a0001c0001t0003g0261 a0001c0001t0003g0274 a0001c0001t0004g0199 a0001c0001t0005g0176 a0001c0003t0001g0256 a0001c0004t0001g0242 a0001c0005t0001g0354 a0001c0006t0002g0327 a0002c0007t0001g0237	278	382	0.7278	-92	c.663 others(109): Show c.663-1321_663-1230delAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCACGTTGGTCAGGCTGATCTCAAAATTCTGACCTTGTGACCCAC CCGCCTCGGCCTCC	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759514	CATACATA others(85): Show CATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACA TACATATGTATGTATGTGTATACATACATATGTATGTATGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01891.hp2 others(4): Show HG01081.hp1 HG01106.hp1 HG01891.hp2 HG02809.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016	7	452	0.0155	-92	c.-24 others(103): Show c.-2421_-2330delACACATACATACATATGTATGTATACACATACAT ACATATGTATGTATACACATACATACATATGTATGTATACACATACATAC ATATGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2105		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	GTATGTAT others(85): Show GTATGTATGTGTATACATACATATGTATGTATGTGTATACATACATATGT ATGTATGTGTATACATACATATGTATGTATGTGTATACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(62): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0020 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0005g0010	65	452	0.1438	-92	c.-24 others(103): Show c.-2430_-2339delTGTATGTATACACATACATACATATGTATGTATA CACATACATACATATGTATGTATACACATACATACATATGTATGTATACA CATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759595	GTATGTAT others(85): Show GTATGTATGTGTATACATACATATGTATGTATGTGTATACATACATATGT ATGTATGTGTATACATACATATGTATGTATGTGTATACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00733.hp1 others(13): Show HG00099.hp1 HG00140.hp1 HG00733.hp1 HG01074.hp1 HG01516.hp1 HG01993.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0007 a0004c0004t0004g0021 a0004c0004t0004g0007 a0004c0004t0004g0021	16	452	0.0354	-92	c.-25 others(103): Show c.-2502_-2411delTGTATGTATACACATACATACATATGTATGTATA CACATACATACATATGTATGTATACACATACATACATATGTATGTATACA CATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2186		chr3	TogoVar
RILPL1_chr12_123465054_123538719	123521639	GTGTATAT others(85): Show GTGTATATATATACACATATATGTATATATATAAATATATATATATACAC ACATATATGTATATATATATAAATATATATATACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0007t0022 a0005c0006t0008	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0006 a0001c0001t0004g0010 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0046 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0080 a0001c0001t0008g0057 a0001c0001t0008g0067 a0001c0001t0011g0095 a0001c0001t0013g0014 a0001c0001t0014g0094 a0001c0001t0019g0066 a0001c0001t0027g0071 a0001c0001t0028g0024 a0001c0007t0022g0055 a0005c0006t0008g0011	78	210	0.3714	-92	c.460 others(109): Show c.460+1764_460+1855delTATATGTGTGTATATATATATTTATATA TATATACATATATGTGTGTATATATATATATTTATATATATACATATATG TGTATATATATACA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
ROBO2_chr3_77035099_77654964	77317772	AGGGGCGC others(85): Show AGGGGCGCTGCTGGGGGGCTGCTAGGGGGGCTGCTGGGGGGGCTGCTGGG GGGCTGCTGGGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	160	0.0063	-92	c.389 others(113): Show c.389-159637_389-159546delCGCTGCTGGGGGGCTGCTAGGGGG GCTGCTGGGGGGGCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGGGCTGC TGGGGGGCTGCTGGGGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597539	ACACACAC others(85): Show ACACACACACAACATATATATATATATATATATATACACATATATATATA TATATACACATATATATATATATATATATACATACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03486.hp2 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0047 a0001c0003t0015 a0001c0003t0027 a0001c0001t0047 a0001c0003t0015 a0001c0003t0027	a0001c0001t0047g0023 a0001c0003t0015g0077 a0001c0003t0027g0039 a0001c0001t0047g0023 a0001c0003t0015g0077 a0001c0003t0027g0039	3	118	0.0254	-92	c.197 others(111): Show c.197-65780_197-65689delATATATATGTATGTATATATATATAT ATATATATGTGTATATATATATATATATGTGTATATATATATATATATAT ATATGTTGTGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPTOR_chr17_80539838_80971368	80963610	CTGCGGCC others(85): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTCTGC GTCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp1 HG03486.hp2 others(1): Show HG02976.hp2 HG03453.hp1 HG03486.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0031 a0001c0044 others(1): Show a0001c0006 a0001c0031 a0001c0044 a0001c0051	a0001c0006t0082 a0001c0031t0027 a0001c0044t0045 others(1): Show a0001c0006t0082 a0001c0031t0027 a0001c0044t0045 a0001c0051t0060	a0001c0006t0082g0015 a0001c0031t0027g0173 a0001c0044t0045g0080 others(1): Show a0001c0006t0082g0015 a0001c0031t0027g0173 a0001c0044t0045g0080 a0001c0051t0060g0116	4	196	0.0204	-92	c.393 others(109): Show c.3939+581_3940-533delTCCCTCACCCCGTCCCCTCTGCGTCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTCTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16645975	TGTGTATA others(85): Show TGTGTATATACATATATGTGTATATATATGTGTATATACATATATGTGTA TATATATGTGTATATACATATATGTGTATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0156 a0001c0001t0059g0156	1	190	0.0053	-92	c.731 others(111): Show c.731+48956_731+49047delGTGTGTATATATATATACACATATAT GTATATACACATATATATACACATATATGTATATACACATATATATACAC ATATATGTATATACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(85): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA20805.hp1 NA19077.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0198 a0001c0001t0001g0203	2	370	0.0054	-92	c.-47 others(103): Show c.-4727_-4636delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C1_chr11_188078_199575	196483	ACATGGGG others(85): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGA GGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0011 a0001c0003t0001g0012	2	354	0.0057	-92	c.20 others(103): Show c.2034_*2125delCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGG TGAGGAGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1909		chr11	TogoVar
SCN9A_chr2_166190185_166380944	166191646	CATATATA others(85): Show CATATATATATATATATATATATATATATATATATACACACACATATATA TATATGTATATATATATATATACACACATATATATATACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG02622.hp2 others(4): Show HG01255.hp2 HG02258.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02976.hp1 HG03540.hp1	a0002 a0018 a0002 a0018	a0002c0020 a0002c0036 a0002c0061 others(2): Show a0002c0020 a0002c0036 a0002c0061 a0002c0067 a0018c0043	a0002c0020t0007 a0002c0036t0007 a0002c0061t0007 others(2): Show a0002c0020t0007 a0002c0036t0007 a0002c0061t0007 a0002c0067t0007 a0018c0043t0007	a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 others(4): Show a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0002c0061t0007g0158 a0002c0067t0007g0028 a0018c0043t0007g0277	7	296	0.0237	-92	c.69 others(103): Show c.6934_*7025delATATGTATATATATATGTGTGTATATATATATAT ATACATATATATATATGTGTGTGTATATATATATATATATATATATATAT ATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3538		chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23379076	CCCAGCCA others(85): Show CCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCA GCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	306	0.0033	-92	c.146 others(109): Show c.1466+349_1466+440delCACACACCCAGCCATCCTCCACTCATTC ATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCC CTCCATCATCCACC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)