Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP92_chr3_128904873_128999076	128955144	GGGGGGTC others(41): Show GGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	340	0.0029	-48	c.135 others(67): Show c.1354-9217_1354-9170delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGGCTGACCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843542	CCTCCTCC others(41): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0304 a0001c0013t0001g0152 a0001c0001t0001g0304 a0001c0013t0001g0152	2	372	0.0054	-48	c.153 others(63): Show c.153-972_153-925delCCTCCTCCTCCTCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843551	CCTCCTCC others(41): Show CCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03098.hp1 others(1): Show HG02257.hp1 HG02717.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0363 others(1): Show a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0363 a0001c0001t0003g0360	4	354	0.0113	-48	c.153 others(63): Show c.153-963_153-916delCCTCCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843554	CCTCCTTC others(41): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp2 NA18906.hp2 HG02818.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0366 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0366	3	322	0.0093	-48	c.153 others(63): Show c.153-960_153-913delCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFD_chr19_854664_868641	866606	CTGCACCC others(41): Show CTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	285	0.0035	-48	c.33 others(59): Show c.3369_*3416delTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCG TCCACCCGCCGCGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2966		chr19	TogoVar
CFH_chr1_196647043_196752504	196692746	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0001 a0007c0007t0002g0022 a0007c0007t0002g0023 others(1): Show a0007c0007t0002g0001 a0007c0007t0002g0022 a0007c0007t0002g0023 a0007c0007t0002g0300	5	84	0.0595	-48	c.133 others(67): Show c.1336+2537_1336+2584delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFLAR_chr2_201111164_201181687	201166222	ACCTCCCT others(41): Show ACCTCCCTCCCCGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0063 a0001c0001t0130g0063	1	232	0.0043	-48	c.22 others(59): Show c.2260_*2307delCGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCC CACGCCTCCCTCCC	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	2260	INFO_REALIGN_3_PRIME	chr2	TogoVar
CFLAR_chr2_201111164_201181687	201166233	CGACGGGG others(41): Show CGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACGCCTCCCTCCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp2 others(7): Show HG00140.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG02055.hp1 HG02145.hp2 HG02896.hp1 HG03130.hp1 HG03516.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0001c0002t0022 a0001c0002t0053 others(5): Show a0001c0002t0004 a0001c0002t0022 a0001c0002t0053 a0002c0004t0035 a0002c0004t0036 a0002c0004t0037 a0002c0004t0038 a0002c0004t0039	a0001c0002t0004g0085 a0001c0002t0004g0180 a0001c0002t0022g0086 others(7): Show a0001c0002t0004g0085 a0001c0002t0004g0180 a0001c0002t0022g0086 a0001c0002t0022g0087 a0001c0002t0053g0179 a0002c0004t0035g0175 a0002c0004t0036g0055 a0002c0004t0037g0169 a0002c0004t0038g0177 a0002c0004t0039g0176	10	232	0.0431	-48	c.22 others(59): Show c.2274_*2321delGCCGGGCGGGGGCTGACCCCCACGCCTCCCTCCC GGACGGGGCGGCTG	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	2274	INFO_REALIGN_3_PRIME	chr2	TogoVar
CHAF1B_chr21_36380392_36424015	36401352	AATATATT others(41): Show AATATATTTTTATATTATACATAATATATATTTTTATATTATACATAAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	323	0.0031	-48	c.664 others(65): Show c.664-1204_664-1157delTATATTATACATAATATATATTTTTATA TTATACATAATATATATTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126862644	TTCCACCA others(41): Show TTCCACCATCACCACCTCCCCCTCCTCCACCATCACCACCTCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03579.hp1 HG02280.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114	3	200	0.0150	-48	c.495 others(65): Show c.495+9933_495+9980delCCCTCCTCCACCATCACCACCTCCCCCT CCTCCACCATCACCACCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862671	CACCATCA others(41): Show CACCATCACCACCTCCCCCTCCTCCACCATCACCACCTCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	214	0.0047	-48	c.495 others(66): Show c.495+9957_495+10004delCCCTCCTCCACCATCACCACCTCCTCC TCCTCTACCATCACCACCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD6_chr20_41397083_41623377	41555849	TGGCGGCT others(41): Show TGGCGGCTGGGCAGAGGCTGCAATCTCGGTACTTTGGGAGGCCAAGGCA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0106 a0010c0023t0001g0106	1	322	0.0031	-48	c.-23 others(65): Show c.-23-4537_-23-4490delTGCCTTGGCCTCCCAAAGTACCGAGATT GCAGCCTCTGCCCAGCCGCC	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CHRM3_chr1_239381568_239920450	239404394	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0114 a0001c0001t0016g0114	1	112	0.0089	-48	c.-52 others(69): Show c.-521+17169_-521+17216delGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3663066	ATCTCATC others(41): Show ATCTCATCTCATCATCTCATCTCATCATCTCATCTCATCTCATCTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02257.hp1 others(6): Show HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02965.hp1 HG03540.hp1 HG03579.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0013 a0009c0016 a0001c0001 a0008c0013 a0009c0016	a0001c0001t0002 a0008c0013t0002 a0009c0016t0002 a0001c0001t0002 a0008c0013t0002 a0009c0016t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0039 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0039 a0008c0013t0002g0038 a0009c0016t0002g0073	9	420	0.0214	-48	c.29 others(59): Show c.2993_*3040delGATGAGATGAGATGAGATGAGATGATGAGATGAG ATGATGAGATGAGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2520		chr11	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(41): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTTCTTCTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0017 a0001c0003t0003g0016 a0001c0001t0001g0017 a0001c0003t0003g0016	2	182	0.0110	-48	c.-40 others(59): Show c.-4062_-4015delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTT CTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	179	0.0056	-48	c.131 others(67): Show c.131-13937_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757478	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	248	0.0040	-48	c.131 others(67): Show c.131-13933_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757482	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	249	0.0040	-48	c.131 others(67): Show c.131-13929_131-13882delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757486	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	248	0.0040	-48	c.131 others(67): Show c.131-13925_131-13878delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143726	GTGTGTGT others(41): Show GTGTGTGTGTATATATATATATATATATATATGTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	269	0.0037	-48	c.108 others(69): Show c.1087-40501_1087-40454delGTGTGTGTATATATATATATATAT ATATATGTGTGTGTGTGTATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	786973	GGCCCAGG others(41): Show GGCCCAGGCCCACCCCAACGCACGATGCCCGCCCGGTGGGTCCCTGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0028 a0028	a0028c0045 a0028c0045	a0028c0045t0001 a0028c0045t0001	a0028c0045t0001g0086 a0028c0045t0001g0086	1	426	0.0023	-48	c.-17 others(59): Show c.-1711_-1664delGCCCAGGCCCACCCCAACGCACGATGCCCGCCCG GTGGGTCCCTGCCT	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding		1646		chr16	TogoVar
CLDN4_chr7_73825996_73837690	73836185	GTCAGCCC others(41): Show GTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02145.hp1 HG02738.hp2 HG00544.hp2 HG02145.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	198	0.0152	-48	c.43 others(59): Show c.4355_*4402delTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGC	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3496		chr7	TogoVar
CLDN4_chr7_73825996_73837690	73836190	CCCCCCGC others(41): Show CCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGCATCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	370	0.0027	-48	c.43 others(59): Show c.4360_*4407delCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGCATCAG	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3501		chr7	TogoVar
CLDN4_chr7_73825996_73837690	73836228	GGGGGCAT others(41): Show GGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	369	0.0027	-48	c.43 others(59): Show c.4398_*4445delGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGT	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3539		chr7	TogoVar
CLEC1A_chr12_10064554_10103985	10088427	TAACTGTT others(41): Show TAACTGTTCAAAGAACAGTTAAAAGAACTGTTCAAAGAACAGTTAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0005t0001 a0005c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(167): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0002g0184 a0001c0001t0003g0008 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0130 a0001c0001t0003g0166 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0053 a0001c0001t0004g0069 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0007g0084 a0001c0001t0008g0086 a0001c0001t0009g0085 a0001c0001t0010g0050 a0001c0001t0013g0302 a0001c0005t0001g0147 a0005c0006t0001g0060	210	313	0.6709	-48	c.214 others(63): Show c.214+649_214+696delCTTTTAACTGTTCTTTGAACAGTTCTTTTA ACTGTTCTTTGAACAGTT	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(41): Show CATATATATATATATATATACACATGTATAAATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(94): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19062.hp1 NA19070.hp1 NA19078.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0007 a0001c0001 a0001c0009 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0001t0043 a0001c0001t0046 a0001c0009t0002 a0005c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0124 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0324 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0003g0014 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0005g0145 a0001c0001t0006g0134 a0001c0001t0008g0015 a0001c0001t0008g0044 a0001c0001t0010g0159 a0001c0001t0013g0043 a0001c0001t0013g0045 a0001c0001t0028g0143 a0001c0001t0032g0150 a0001c0001t0037g0064 a0001c0001t0043g0172 a0001c0001t0046g0217 a0001c0009t0002g0195 a0005c0007t0002g0152	97	280	0.3464	-48	c.63+ others(63): Show c.63+9339_63+9386delATATATATATATATGTATTTATACATGTGT ATATATATATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIP1_chr12_122266469_122427669	122326245	AGTGAGAC others(41): Show AGTGAGACTGGCCAGGAATGGTGGCTCATGCCTGCAATCCCAGCACCTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	232	0.0043	-48	c.324 others(67): Show c.3249+1654_3249+1701delAAGGTGCTGGGATTGCAGGCATGAGC CACCATTCCTGGCCAGTCTCAC	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	17/25			chr12	TogoVar
CLMP_chr11_123064872_123200248	123118955	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0019 a0001c0001t0016g0019	1	250	0.0040	-48	c.29- others(65): Show c.29-21051_29-21004delGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPX_chr15_65143219_65190342	65145958	AAAATATA others(41): Show AAAATATATATATAAATATATATATAAATATATATATAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0143 a0001c0001t0002g0144	2	166	0.0120	-48	c.48 others(59): Show c.4817_*4864delATATATATATTTATATATATATTTATATATATAT TTATATATATATTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2260		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140419520	CATATGTG others(41): Show CATATGTGTGTGTATATATATACATATATACGTGTACGTATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG01243.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0030 a0001c0008t0016 a0001c0001t0030 a0001c0008t0016	a0001c0001t0030g0059 a0001c0008t0016g0051 a0001c0001t0030g0059 a0001c0008t0016g0051	2	69	0.0290	-48	c.638 others(65): Show c.638-1600_638-1553delGTGTGTGTATATATATACATATATACGT GTACGTATATATGTATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUL1_chr18_591988_655182	596819	TCTGCAGG others(41): Show TCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACCCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18939.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	394	0.0051	-48	c.-44 others(57): Show c.-445_-398delCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCC CCGCCCACCCGG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		168		chr18	TogoVar
CLUL1_chr18_591988_655182	596921	TCTGCAGG others(41): Show TCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACCCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18939.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	403	0.0050	-48	c.-34 others(57): Show c.-343_-296delCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCC CCGCCCACCCGG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		66		chr18	TogoVar
CMC2_chr16_80961448_81011885	80963393	TATTTAAC others(41): Show TATTTAACAGAAAAACCCAGAACTCTTCAGAATCAAAAAGGCCAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA19054.hp2 NA18977.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	406	0.0049	-48	c.12 others(61): Show c.12652_*12699delTATTTTGGCCTTTTTGATTCTGAAGAGTTCTG GGTTTTTCTGTTAAAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		3054		chr16	TogoVar
CMTM4_chr16_66609750_66701743	66631197	TGTCCGGG others(41): Show TGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	317	0.0032	-48	c.363 others(65): Show c.363+5160_363+5207delGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGAC	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66631202	GGGAGGGA others(41): Show GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	318	0.0031	-48	c.363 others(65): Show c.363+5155_363+5202delTGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCACCTCCCTCC	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CNBP_chr3_129162827_129188896	129172620	GCAGCCAG others(41): Show GCAGCCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01496.hp2 HG00423.hp2 HG00673.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0026 a0001c0001t0001 a0001c0002t0026	a0001c0001t0001g0047 a0001c0002t0026g0167 a0001c0001t0001g0047 a0001c0002t0026g0167	3	421	0.0071	-48	c.-14 others(63): Show c.-14-897_-14-850delTCTGTCTGTCTGCCTGCCTGCCTGCCTGCC TGCCTGCCTGCCTGGCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGB3_chr8_86569179_86748634	86694081	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	286	0.0035	-48	c.339 others(67): Show c.339-23031_339-22984delTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCTGGGAGGGAGGTGGGGGG	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNN2_chr19_1021608_1044065	1036664	AGTCTCAG others(41): Show AGTCTCAGCCCCTTCCCTAGACCACCTCCGGCTTCCCTCCCCGCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0027	2	388	0.0052	-48	c.654 others(63): Show c.654+108_654+155delAGCCCCTTCCCTAGACCACCTCCGGCTTCC CTCCCCGCTCTCTGTCTC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNTFR_chr9_34546433_34594724	34555903	GCCATCTC others(41): Show GCCATCTCCCTCCCCTGCCATCTCCCTCCCCCGCCATCTCCCTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG03540.hp1 others(3): Show HG02965.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0212	6	400	0.0150	-48	c.768 others(63): Show c.768+304_768+351delTGGGGGAGGGAGATGGCGGGGGAGGGAGAT GGCAGGGGAGGGAGATGG	CNTFR	ENSG00000122756.15	transcript	ENST00000378980.8	protein_coding	7/9			chr9	TogoVar
CNTN1_chr12_40687439_41077415	40925579	GTATATAT others(41): Show GTATATATACATGTATATATATATATACGTGTATATATATATATACACA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	227	0.0044	-48	c.496 others(63): Show c.496+936_496+983delCATGTATATATATATATACGTGTATATATA TATATACACATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(41): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0105 a0001c0007t0016g0105	1	85	0.0118	-48	c.-14 others(69): Show c.-144-51467_-144-51420delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721776	TCTATATA others(41): Show TCTATATATAGTCTACATATATAGACTATATATAGTCTATATATGTAGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	40	0.0250	-48	c.98- others(65): Show c.98-52480_98-52433delCATATATAGACTATATATAGTCTATATA TGTAGACTATATATAGTCTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147618664	TATATATA others(41): Show TATATATAATAACAGCTATTATATATATATAATAACAGCTATTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG03139.hp1 others(4): Show HG02896.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0004c0020	a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 others(4): Show a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 a0001c0009t0019 a0001c0011t0016 a0001c0013t0003 a0004c0020t0005	a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 others(4): Show a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0011t0016g0019 a0001c0013t0003g0039 a0004c0020t0005g0016	7	40	0.1750	-48	c.189 others(69): Show c.1898-20440_1898-20393delTATATAATAACAGCTATTATATAT ATATAATAACAGCTATTATACACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(41): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG02630.hp1 others(5): Show HG00735.hp2 HG01433.hp1 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03654.hp2 HG03927.hp1 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0012 others(1): Show a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0012 a0002c0001t0001g0065	8	360	0.0222	-48	c.-21 others(57): Show c.-219_-172delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCG CGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COL13A1_chr10_69796906_69964144	69936080	GGAGGGAG others(41): Show GGAGGGAGGGAAGGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0003 a0002c0008t0001 a0002c0005t0003 a0002c0008t0001	a0002c0005t0003g0321 a0002c0008t0001g0111 a0002c0005t0003g0321 a0002c0008t0001g0111	2	322	0.0062	-48	c.177 others(65): Show c.1771-673_1771-626delGGGAGGGAAGGAGGGAAGGGAGGAAGGA AGGAAGGAAGGAAGGAAAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	69921700	ATATATTC others(41): Show ATATATTCGTATGTAGATTCGTATATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01256.hp1 others(16): Show HG00099.hp2 HG01106.hp1 HG01256.hp1 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0004c0018 a0010c0022	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0002c0003t0002 a0002c0003t0011 a0002c0003t0039 a0002c0004t0001 a0002c0004t0011 a0002c0004t0016 a0002c0006t0003 a0002c0009t0014 a0004c0018t0025 a0010c0022t0003	a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 others(16): Show a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 a0001c0002t0001g0073 a0001c0002t0002g0059 a0001c0002t0008g0160 a0002c0003t0002g0175 a0002c0003t0011g0115 a0002c0003t0039g0127 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0161 a0002c0004t0011g0111 a0002c0004t0016g0112 a0002c0006t0003g0162 a0002c0006t0003g0163 a0002c0009t0014g0012 a0004c0018t0025g0114 a0010c0022t0003g0113	19	178	0.1067	-48	c.267 others(65): Show c.267-6183_267-6136delATTCGTATGTAGATTCGTATATGTATAT TCGTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63306165	AGGAAGTT others(41): Show AGGAAGTTCTTCCTCGTGTCTGACCACACGGTCTCTGACCACGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0003 a0017c0021t0003	a0017c0021t0003g0217 a0017c0021t0003g0217	1	283	0.0035	-48	c.496 others(63): Show c.496+307_496+354delACCACGAGGCCGGGAAGTTCTTCCTCGTGT CTGACCACACGGTCTCTG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178294413	TCCCAAAT others(41): Show TCCCAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0211 a0002c0003t0002g0211	1	150	0.0067	-48	c.407 others(65): Show c.407-4092_407-4045delGAGGGAGCTCGGTAGTGATTTGGGGAGG GAGCTGGGTAGTGATTTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178362905	CCCCACAG others(41): Show CCCCACAGCAACCCACCCCCACAGCAACCCACCCCCACAGCAATCCACT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0139	1	236	0.0042	-48	c.362 others(67): Show c.362-56034_362-55987delAGTGGATTGCTGTGGGGGTGGGTTGC TGTGGGGGTGGGTTGCTGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101450744	TTCTATAT others(41): Show TTCTATATGAATATGAATTCCATAGTCTATATGAATATGAATTCCATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03516.hp1 HG02647.hp1 HG02896.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0020 a0002c0004t0001 a0001c0001t0002 a0001c0002t0020 a0002c0004t0001	a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0150 a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0150	3	78	0.0385	-48	c.385 others(65): Show c.385+3020_385+3067delAATTCCATAGTCTATATGAATATGAATT CCATAGTCTATATGAATATG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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