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
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(195): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTT GCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(151): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19064.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0003 a0002c0002 others(7): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0009 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0004c0005t0001 a0005c0006t0001 a0006c0007t0003 a0007c0008t0004 a0008c0009t0008 a0010c0012t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(143): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0293 a0001c0001t0001g0389 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0067 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0390 a0001c0001t0002g0391 a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0287 a0001c0001t0003g0297 a0001c0001t0003g0335 a0001c0001t0004g0061 a0001c0001t0004g0066 a0001c0001t0004g0080 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0181 a0001c0001t0004g0221 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0006g0139 a0001c0001t0007g0012 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0008g0088 a0001c0001t0010g0011 a0001c0001t0012g0226 a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0068 a0001c0003t0001g0081 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0174 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0291 a0001c0003t0001g0295 a0001c0003t0001g0364 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0064 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0097 a0002c0002t0001g0137 a0002c0002t0001g0182 a0002c0002t0001g0231 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0286 a0002c0002t0001g0296 a0002c0002t0002g0009 a0002c0002t0002g0065 a0002c0002t0002g0165 a0002c0002t0003g0098 a0002c0002t0006g0052 a0002c0002t0008g0016 a0002c0002t0008g0037 a0003c0004t0001g0051 a0003c0004t0002g0043 a0003c0004t0002g0044 a0003c0004t0002g0050 a0003c0004t0002g0056 a0003c0004t0002g0057 a0003c0004t0002g0058 a0003c0004t0002g0109 a0003c0004t0002g0125 a0003c0004t0002g0126 a0003c0004t0002g0280 a0003c0004t0008g0060 a0004c0005t0001g0015 a0004c0005t0001g0122 a0004c0005t0001g0130 a0005c0006t0001g0093 a0006c0007t0003g0070 a0007c0008t0004g0071 a0008c0009t0008g0323 a0010c0012t0001g0105	154	446	0.3453	202	c.-33 others(213): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGG AGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTC ACTGCAACCTCTGCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(195): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATACGTATAATATAATTTATATTATATATGTATA TAATATAATTTATAATTATATATTTATATATAATATAATTTATATTATAT ATGTATATAATATAATTTATAATTATATATTTATATATAATATAATTTAT ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01928.hp2 HG01109.hp2 HG01261.hp2 HG01928.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0020 a0004c0005t0004 a0004c0005t0020	a0004c0005t0004g0229 a0004c0005t0020g0224 a0004c0005t0020g0225 a0004c0005t0004g0229 a0004c0005t0020g0224 a0004c0005t0020g0225	3	372	0.0081	202	c.54 others(213): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATACGTATAATATAATTTA TATTATATATGTATATAATATAATTTATAATTATATATTTATATATAATA TAATTTATATTATATATGTATATAATATAATTTATAATTATATATTTATA TATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C8A_chr1_56849797_56923223	56885316	A A	ATATATAT others(195): Show ATATATATTTATTTAAATATATATTTACATAAATATTTATTTAAATATAT ATTTACATAAATATATATTTATTTAAATATATATTTATATTTATTTAAAT ATATATTTACATAAATATATATTTATTTAAATATATATTTACGTAAATAT ATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATAT ATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0061 a0001c0001t0001g0065	2	366	0.0055	202	c.856 others(217): Show c.856-606_856-605insATTTATTTAAATATATATTTACATAAATAT TTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATATTT ATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATAT ATTTACGTAAATATATATTTATTTAAATATATATTTACATAAATATATAT TTATTTAAATATATATTTATAT	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(195): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0064 a0002c0010t0002g0064	1	218	0.0046	202	c.573 others(221): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(195): Show GAAGTGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGA AGTGGGAGGAAGGGGGAGGAAGGGGGGGGAAGGGGGGAAGGGGGAGGAAG GGGGGGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAG GGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGG GGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	234	0.0043	202	c.207 others(219): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCCCCCCCTTCCTCCCCCTTCCCCCCTTCCCC CCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACATACA others(195): Show CACATACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0171 a0001c0001t0003g0172	2	262	0.0076	202	c.218 others(217): Show c.218+721_218+722insACATACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACAT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALY_chr10_133319072_133341896	133334416	A A	AGCGGGGA others(195): Show AGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGG GAGAAGGATCTGAAAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGG ACATGAGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCTCT GAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	250	0.0040	202	c.-21 others(219): Show c.-21+2417_-21+2418insCTCAGAGCCTTCCCCGCTCAGATCCTTC GCCCCTCAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTC AGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCGTCAG ATCCTTCGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCGC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(195): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACGC GTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	366	0.0027	202	c.645 others(219): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(195): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01517.hp2 others(3): Show HG00735.hp2 HG01496.hp2 HG01517.hp2 HG03492.hp2 NA18965.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001	a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0002g0052 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0002g0052 a0001c0002t0001g0086 a0001c0002t0002g0051 a0001c0009t0001g0087	6	410	0.0146	202	c.-22 others(219): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(195): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	410	0.0024	202	c.-22 others(219): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(195): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTC ATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCT CCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCCC CAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0021 a0001c0021t0001g0050 a0001c0021t0001g0021 a0001c0021t0001g0050	2	322	0.0062	202	c.326 others(219): Show c.3260+648_3260+649insGTGGGGGCGGAGGGGCGAGGGGCGGAGG GATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGG GCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAG AGGCGGAGGGTGGGGGCGGAGGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(195): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	186	0.0054	202	c.615 others(219): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(195): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0015 a0010c0020t0015	a0010c0020t0015g0160 a0010c0020t0015g0160	1	186	0.0054	202	c.615 others(219): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(195): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG AAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0289 a0002c0004t0002g0289	1	364	0.0028	202	c.234 others(219): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(195): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAA GAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	364	0.0028	202	c.234 others(219): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCCTCTCCTTCTCC TTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCT TCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGGG others(195): Show AAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAA GGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGA AGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	364	0.0028	202	c.234 others(219): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761466	G G	GAAGAAGA others(195): Show GAAGAAGAAGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGG AAGGGGAAGGGGAAGGGGAGGGGAGGGGGGAGGGAGGGGGAGGGGGGAGG GGGGAGGGGAGGGAGAGGGGAGAGGGAGAGGGAGAGAAGAAGGAGAAGGA GAAGGAGAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGA AGA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0234 a0003c0005t0001g0234	1	364	0.0028	202	c.234 others(219): Show c.234+6841_234+6842insTCTTCTTCTTCTTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTCCTCTCCTTCTCCTTCTCCTTCTTCTCTCCCTCTC CCTCTCCCCTCTCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCTCCCCC CTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCCTTCC CTTCCCCTTCCCCTTCTTCTTCTT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(195): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCCTCCCTTCCCCCTCCC CTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTC TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	410	0.0024	202	c.-22 others(213): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGGAGGGTGGTGG GAGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCN4_chr8_133186039_133236690	133213958	T T	TATACTAT others(195): Show TATACTATATATACACTATATATAGTGTATATATACTATATATAACTATA TATAGTAGTTATATATAGTATATATACACTATATATAGTATATATACACT ATATATAGTAGTTATATATAGTATATATACACTATATATAGTATATATAC ACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTA TAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0103	1	396	0.0025	202	c.349 others(217): Show c.349+840_349+841insGTATATATACTATATATAACTATATATAGT AGTTATATATAGTATATATACACTATATATAGTATATATACACTATATAT AGTAGTTATATATAGTATATATACACTATATATAGTATATATACACTATA TATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATACATA CTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(195): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA19009.hp1 HG03669.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0020 a0002c0002t0014g0008 a0002c0002t0002g0020 a0002c0002t0014g0008	2	442	0.0045	202	c.27 others(213): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(195): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGTATATACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	442	0.0023	202	c.27 others(213): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGTATATACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(195): Show CGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0100 a0002c0005t0007g0100	1	106	0.0094	202	c.169 others(221): Show c.169+28403_169+28404insATGTGTGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61565358	G G	GGGAGGTG others(195): Show GGGAGGTGATGGTGGTGGTGCTCTTGGTGGTGGTGGCGGTGCTCTTGGTG GTAGGTGGTGGTGGTGGTGGTGGCGGTGCTCTTGGTGGTAGGTGGTGGTG GTGGTGGTGGTGGTGGTCGCGGTGCTCTTGGTGGTGGTGGTAGTGGTCCT CTTGGTGATGGGGAGGTGGTGGTGGTGGTGCTCTTGGTGGTGGCGGTGCT CTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	106	0.0094	202	c.170 others(223): Show c.170-178203_170-178202insAGGTGATGGTGGTGGTGCTCTTGG TGGTGGTGGCGGTGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGCGGT GCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGTGGTGGTCGCGGTGCTC TTGGTGGTGGTGGTAGTGGTCCTCTTGGTGATGGGGAGGTGGTGGTGGTG GTGCTCTTGGTGGTGGCGGTGCTCTTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELSR1_chr22_46356174_46542620	46366247	G G	GGGGCAGG others(195): Show GGGGCAGGGAGGGAAGTTGCGGGTGGGAAGAAAGGTGGGGGGGAGGAAAG GTGCACGGGGGGAGGAAAGGTGCACGGGGGGGAGGAAAGGTGCACGGGGG GAGGAAAGGTGCACGGGGGGAGGAAAGGTGCACGGGGGGAGGAAAGGTGC ACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGG TGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0020 a0020	a0020c0043 a0020c0043	a0020c0043t0001 a0020c0043t0001	a0020c0043t0001g0052 a0020c0043t0001g0052	1	104	0.0096	202	c.830 others(219): Show c.8300+138_8300+139insGCACCTTTCCTCCCCCCGCACCTTTCCT CCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCGTGCACCT TTCCTCCCCCCGTGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCC GTGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCCACCTTTCTTCC CACCCGCAACTTCCCTCCCTGCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881880	A A	ATAGATAC others(195): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0028 a0001c0002t0007g0028	1	440	0.0023	202	c.12 others(213): Show c.1296_*1297insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		398		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(195): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 NA18522.hp1 HG02486.hp2 HG02572.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0224 a0001c0001t0002g0019 a0001c0001t0002g0224	3	440	0.0068	202	c.12 others(213): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTGTCTATATATCTATCTAGATGTGTCTATATATCTATC TAGATGTGTCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CEP131_chr17_81184596_81227965	81225183	T T	TTTTTTTT others(195): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0043 a0043	a0043c0068 a0043c0068	a0043c0068t0004 a0043c0068t0004	a0043c0068t0004g0334 a0043c0068t0004g0334	1	384	0.0026	202	c.-24 others(213): Show c.-2433_-2432insTTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding		2219		chr17	TogoVar
CEP72_chr5_607340_658553	628774	C C	CGACCCAG others(195): Show CGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTC CCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGG AGAACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTT CTTTGTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCC CAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	91	0.0110	202	c.512 others(219): Show c.512+4355_512+4356insTTCTGGAGAACTCAGGTCACAGGCCCCG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTG TGCAGCGTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGG ACCCAGCCCCCTTCTTTGTGCAGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80800768	T T	TATATATA others(195): Show TATATATATATGTATACATATATATGTATATATATGTATATATATGTTTA CATATATATGTATATATGTATACATATATATGCATATATATGTATACATA TATATGTATATATATGTATACATATATATGTATATATATGTATACATATA TATATGTATACATATATATGTATATATATGTATACATGTATATATATGTA TAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0018 a0001c0009t0002g0015 a0001c0001t0001g0018 a0001c0009t0002g0015	2	96	0.0208	202	c.334 others(221): Show c.334-69215_334-69214insGTATACATATATATGTATATATATGT ATATATATGTTTACATATATATGTATATATGTATACATATATATGCATAT ATATGTATACATATATATGTATATATATGTATACATATATATGTATATAT ATGTATACATATATATATGTATACATATATATGTATATATATGTATACAT GTATATATATGTATACATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP52_chr17_9571642_9648447	9631030	G G	GAAAGAAA others(195): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG GAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	316	0.0032	202	c.117 others(221): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20356737	G G	GGTCACAC others(195): Show GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACT GAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTG GTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03453.hp1 NA18955.hp2 HG01433.hp1 HG03453.hp1 NA18955.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0002 a0010c0016t0002 a0001c0001t0002 a0010c0016t0002	a0001c0001t0002g0035 a0001c0001t0002g0061 a0010c0016t0002g0044 a0001c0001t0002g0035 a0001c0001t0002g0061 a0010c0016t0002g0044	3	236	0.0127	202	c.351 others(221): Show c.3514-3464_3514-3463insTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCATACTGTGAGTGAG GAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCA CACTGTGAAGGGTGGTAGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356791	G G	GGTGGTCA others(195): Show GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCATA CTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGT GGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTC ACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGG GAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0002 a0014c0031t0002	a0014c0031t0002g0043 a0014c0031t0002g0043	1	236	0.0042	202	c.351 others(221): Show c.3514-3393_3514-3392insCAGTGTGAGGGGAGGTGGTCATACTG TGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGA GGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356872	G G	GGTCACAC others(195): Show GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACT GAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTG GTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02717.hp1 others(2): Show HG01891.hp1 HG02572.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0001 a0005c0025 a0017c0037 a0001c0001 a0005c0025 a0017c0037	a0001c0001t0005 a0005c0025t0005 a0017c0037t0005 a0001c0001t0005 a0005c0025t0005 a0017c0037t0005	a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 others(2): Show a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0005c0025t0005g0140 a0017c0037t0005g0138	5	236	0.0212	202	c.351 others(221): Show c.3514-3329_3514-3328insTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCATACTGTGAGTGAG GAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCA CACTGTGAAGGGTGGTAGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFI_chr4_109735695_109806999	109753058	A A	ATTATAAA others(195): Show ATTATAAAAATAAATATTTATAATATATATTTATTATATAAATAAATATT TATAATATATATTTATTATATATTTATATATAATAAATATTTATAATATA TATTTATTATATAAACAAATATTTATAATATATATTTATTATATAAACAA ATATTTATAATATATATTTATTATATAAACAAATATTTATAATATATATT TAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	354	0.0028	202	c.905 others(217): Show c.905-556_905-555insATAAATATATATTATAAATATTTGTTTATA TAATAAATATATATTATAAATATTTGTTTATATAATAAATATATATTATA AATATTTGTTTATATAATAAATATATATTATAAATATTTATTATATATAA ATATATAATAAATATATATTATAAATATTTATTTATATAATAAATATATA TTATAAATATTTATTTTTATAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753058	A A	ATTATATA others(195): Show ATTATATAAATAAATATTTATAATATATATTTATTATATAAATAAATATT TATAATATATATTTATTATATATTTATATATAATAAATATTTATAATATA TATTTATTATATAAACAAATATTTATAATATATATTTATTATATAAACAA ATATTTATAATATATATTTATTATATAAACAAATATTTATAATATATATT TAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp2 others(36): Show HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01255.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA19063.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19087.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0011 a0001c0002 a0009c0011	a0001c0002t0001 a0001c0002t0002 a0009c0011t0001 a0001c0002t0001 a0001c0002t0002 a0009c0011t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0043 others(36): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0274 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0009c0011t0001g0113	39	354	0.1102	202	c.905 others(217): Show c.905-556_905-555insATAAATATATATTATAAATATTTGTTTATA TAATAAATATATATTATAAATATTTGTTTATATAATAAATATATATTATA AATATTTGTTTATATAATAAATATATATTATAAATATTTATTATATATAA ATATATAATAAATATATATTATAAATATTTATTTATATAATAAATATATA TTATAAATATTTATTTATATAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753833	A A	ATAATGTA others(195): Show ATAATGTATAATTTTATATATATAATATCTAATGTATAATTTTATATTAT ATATTATCTAATGTATAATTTTATATTATATATTATATAATGTATAATTT TATATTATATAATATCTAATGTATAATTTTATATTATATATTATCTAATG TATAATTTTATATTATATATTATCTAATGTATAATTTTATATTATATATT ATC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	354	0.0028	202	c.905 others(219): Show c.905-1331_905-1330insGATAATATATAATATAAAATTATACATT AGATAATATATAATATAAAATTATACATTAGATAATATATAATATAAAAT TATACATTAGATATTATATAATATAAAATTATACATTATATAATATATAA TATAAAATTATACATTAGATAATATATAATATAAAATTATACATTAGATA TTATATATATAAAATTATACATTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753857	A A	AATATCTA others(195): Show AATATCTAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTA TATTATATATTATATAATGTATAATTTTATATTATATAATATCTAATGTA TAATTTTATATTATATATTATCTAATGTATAATTTTATATTATATATTAT CTAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTATATTA TAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	354	0.0028	202	c.905 others(219): Show c.905-1355_905-1354insATATAATATAAAATTATACATTAGATAA TATATAATATAAAATTATACATTAGATAATATATAATATAAAATTATACA TTAGATAATATATAATATAAAATTATACATTAGATATTATATAATATAAA ATTATACATTATATAATATATAATATAAAATTATACATTAGATAATATAT AATATAAAATTATACATTAGATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(195): Show TATATATATATATGAATATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATGAATATATATATGAATATATATATATGAATATATATATG AATATATATATGAATATATATATGAATATATATATATGAATATATATATA TGA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	245	0.0041	202	c.124 others(217): Show c.1244+96_1244+97insTCATATATATATATTCATATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLSTN1_chr1_9723926_9828965	9810141	A A	AAGGGAAG others(195): Show AAGGGAAGGGGGGAGGGAGGGAAGGGGGCAGGGAGGGAGGGAAGGGGGAG GGAGGGAAGGGGGGTAGGGAGGGAGGGAAGGGAGGTAGGGAGGGAGGGAA GGGGGGTAGGGAGGGAGGGAAGGGGGGTAGGGAGGGAGGGAAGGGGGGTA GGGAGGGAGGGAAGGGGGGTAGGGAGGGAGGGAAGGGGGGTAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp1 HG03471.hp1 others(2): Show HG02809.hp1 HG02970.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0195 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0195 a0001c0001t0001g0252 a0001c0001t0020g0269	5	270	0.0185	202	c.91+ others(219): Show c.91+13501_91+13502insCCCTCCCTCCCTACCCCCCTTCCCTCCC TCCCTACCCCCCTTCCCTCCCTCCCTACCCCCCTTCCCTCCCTCCCTACC CCCCTTCCCTCCCTCCCTACCCCCCTTCCCTCCCTCCCTACCTCCCTTCC CTCCCTCCCTACCCCCCTTCCCTCCCTCCCCCTTCCCTCCCTCCCTGCCC CCTTCCCTCCCTCCCCCCTTCCCT	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
COL19A1_chr6_69861556_70217468	69921459	A A	ATCATATA others(195): Show ATCATATATATCATATATCATATATATCATATATATCATATATCATATAT ATCATATATATCATATATCATATATATCATATATATCATATATATCATAT ATATTCATATATTCATATATATCATATATATTCATATATTCATATATATC ATATATATTCATATATTCATATATATCATATATATTCATATATTCATATA TAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0014 a0002c0009t0014	a0002c0009t0014g0012 a0002c0009t0014g0012	1	182	0.0055	202	c.267 others(219): Show c.267-6440_267-6439insCATATATCATATATATCATATATATCAT ATATCATATATATCATATATATCATATATCATATATATCATATATATCAT ATATATCATATATATTCATATATTCATATATATCATATATATTCATATAT TCATATATATCATATATATTCATATATTCATATATATCATATATATTCAT ATATTCATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(195): Show TATATATACATATATGTGTATATATACATATATGTGTATATATGTGTATA TATACATATATATACATATATGTGTATATATACGTATATATACATATATG TGTATATATACGTATATATACATATATGTGTATATATACATATATGTGTA TATATGTGTATATATACATATATGTGTATATATACATATATGTGTATATA TAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp1 HG02004.hp2 others(15): Show HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02135.hp2 HG04228.hp2 NA18950.hp2 NA18951.hp2 NA18963.hp1 NA18984.hp1 NA18984.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0011 a0012 a0034	a0001c0001 a0003c0002 a0005c0005 others(5): Show a0001c0001 a0003c0002 a0005c0005 a0006c0010 a0007c0006 a0011c0012 a0012c0017 a0034c0033	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0003c0002t0004 a0005c0005t0001 a0005c0005t0002 a0006c0010t0003 a0007c0006t0005 a0011c0012t0001 a0012c0017t0001 a0034c0033t0001	a0001c0001t0001g0022 a0001c0001t0002g0097 a0001c0001t0002g0111 others(15): Show a0001c0001t0001g0022 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0252 a0001c0001t0002g0264 a0003c0002t0003g0218 a0003c0002t0004g0273 a0005c0005t0001g0032 a0005c0005t0001g0194 a0005c0005t0002g0197 a0006c0010t0003g0316 a0007c0006t0005g0126 a0011c0012t0001g0239 a0011c0012t0001g0247 a0011c0012t0001g0261 a0011c0012t0001g0262 a0012c0017t0001g0112 a0034c0033t0001g0188	18	344	0.0523	202	c.88- others(219): Show c.88-34850_88-34849insACATATATGTGTATATATACATATATGT GTATATATGTGTATATATACATATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(195): Show TATATATACATATATGTGTATATATGTGTATATATACATATATATACATA TATGTGTATATATACGTATATATACATATATGTGTATATATACGTATATA TACATATATGTGTATATATACATATATGTGTATATATGTGTATATATACA TATATGTGTATATATACATATATGTGTATATATACATATATGTGTATATA TAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0032 a0032	a0032c0032 a0032c0032	a0032c0032t0012 a0032c0032t0012	a0032c0032t0012g0062 a0032c0032t0012g0062	1	344	0.0029	202	c.88- others(219): Show c.88-34850_88-34849insACATATATGTGTATATATGTGTATATAT ACATATATATACATATATGTGTATATATACGTATATATACATATATGTGT ATATATACGTATATATACATATATGTGTATATATACATATATGTGTATAT ATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134685126	C C	CCATCCAT others(195): Show CCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATTCATCCA TCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATCC ATTCATCCATCCACCATCCATCCATCCATCCATCCATCCACCATCCATCC ATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCATCC ATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	272	0.0037	202	c.110 others(219): Show c.110-5774_110-5773insCGTCCATCCACCATCCATTCACCCATCC ATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATC CATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCAC CATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATC CATCCATCCATTCATCCATCCATC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(195): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGACTA CAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTT TTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	372	0.0027	202	c.-70 others(211): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGT GTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPD_chr17_30373927_30474989	30435318	G G	GCATGACT others(195): Show GCATGACTGAAGATTCCTACCTCTCACCATGCCAAGGTCTGGACACCACA TCTGTAAATCTGTGACTTATTTTCACTGGAATGTAACTATTATTAACTTT CCAGATTTAGCCAACATGATGTGTGATTTATTATGAGACTATTTTTAAAG CTCTAAATAAGTGAATTTTATCAAACATAGCATTAAACACATAAAATATA ATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	296	0.0034	202	c.212 others(221): Show c.2127+3437_2127+3438insCATGACTGAAGATTCCTACCTCTCAC CATGCCAAGGTCTGGACACCACATCTGTAAATCTGTGACTTATTTTCACT GGAATGTAACTATTATTAACTTTCCAGATTTAGCCAACATGATGTGTGAT TTATTATGAGACTATTTTTAAAGCTCTAAATAAGTGAATTTTATCAAACA TAGCATTAAACACATAAAATATAATA	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	8/20			chr17	TogoVar
CPNE4_chr3_131528569_132040014	131978408	A A	ATATTTAT others(195): Show ATATTTATATATATTTATATATTTATATATATTTATATATATATTTATAT TTATATATATTTATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT ATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0087 a0001c0003t0010g0087	1	94	0.0106	202	c.-2+ others(219): Show c.-2+56158_-2+56159insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATAAATATATAAATATATATAAATATAAATATATATATAAATATATA TAAATATATAAATATATATAAATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587775	A A	AACACGGC others(195): Show AACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0226 a0001c0002t0004g0226	1	348	0.0029	202	c.927 others(217): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GTGTGTCA others(195): Show GTGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGTGTGTCACCCACAGAAACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGTGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	348	0.0029	202	c.928 others(217): Show c.928-469_928-468insTGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGTGTGT CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(195): Show ATATATATATATATATATATATATATATATATATTTCTATATATATATAT ATATATATATTTCTATATATATATATATATTTCTATATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATATTTCTATATATATATATAT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	370	0.0027	202	c.56 others(213): Show c.5645_*5646insTATATATATATATATATATATATATATATATATT TCTATATATATATATATATATATATTTCTATATATATATATATATTTCTA TATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATATTTC TATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(195): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATATTTCTATATATATATATAT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	370	0.0027	202	c.56 others(213): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATATTTC TATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar

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