JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CIB4_chr2_26576205_26646366	26589042	TTCTTCTT others(23): Show TTCTTCTTCTTCTTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	344	0.0029	-30	c.329 others(47): Show c.329-5174_329-5145delGGAAGAGGAAGAGGAAGAAGAAGAAGAA GA		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6						chr2	TogoVar
CIB4_chr2_26576205_26646366	26589060	CTCTTCCT others(23): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG03041.hp1 others(1): Show HG00738.hp2 HG01346.hp1 HG03041.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 others(1): Show a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072	4	344	0.0116	-30	c.329 others(47): Show c.329-5192_329-5163delAGAAGAAGAAGAAGAAGAGGAAGAGGAA GA		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6						chr2	TogoVar
CIB4_chr2_26576205_26646366	26589066	CTCTTCCT others(23): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02109.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0316 a0002c0002t0001g0317	2	344	0.0058	-30	c.329 others(47): Show c.329-5198_329-5169delAGAAGAAGAAGAAGAAGAAGAAGAGGAA GA		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6						chr2	TogoVar
CIDEB_chr14_24300187_24312977	24306291	AGGATCAG others(23): Show AGGATCAGGGTTAAGCTAGAGAGGAAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	414	0.0024	-30	c.336 others(43): Show c.336+53_336+82delCGGGCTTCCTCTCTAGCTTAACCCTGATCC		CIDEB	ENSG00000136305.12	transcript	ENST00000554411.6	protein_coding	3/4						chr14	TogoVar
CIT_chr12_119680791_119882320	119731405	GGCAGAGT others(23): Show GGCAGAGTTGCAGTGAGCCGAGATGGCACCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0022 a0001c0005t0010 a0001c0005t0022	a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 a0001c0005t0022g0041	5	236	0.0212	-30	c.335 others(47): Show c.3351-805_3351-776delTGGTGCCATCTCGGCTCACTGCAACTCT GC		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	26/47						chr12	TogoVar
CKAP2_chr13_52450478_52481627	52455635	CGCGGTGG others(23): Show CGCGGTGGCGGTGGCGGTGGCGGTGGCGGTG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	406	0.0025	-30	c.70+ others(41): Show c.70+20_70+49delTGGCGGTGGCGGTGGCGGTGGCGGTGGCGG		CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP5_chr11_46738048_46851280	46802480	GTTGCAGT others(23): Show GTTGCAGTGAGTGCAGATCGCACCACTGCAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04115.hp2 HG03688.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0141 a0001c0002t0003g0124 a0001c0002t0003g0141	2	294	0.0068	-30	c.979 others(47): Show c.979-1206_979-1177delGTGCAGTGGTGCGATCTGCACTCACTGC AA		CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	8/43						chr11	TogoVar
CLCN7_chr16_1439935_1480028	1452324	TGGTTCCT others(23): Show TGGTTCCTCTGAGCGTAGTGCTTTCCAGGGC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0381 a0001c0003t0001g0381	1	404	0.0025	-30	c.135 others(47): Show c.1353+401_1353+430delGCCCTGGAAAGCACTACGCTCAGAGGAA CC		CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	15/24						chr16	TogoVar
CLCNKA_chr1_16017036_16039050	16037991	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(21): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01433.hp2 HG01516.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 NA18940.hp2 NA18970.hp2 NA18973.hp1 NA19074.hp1 NA19090.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0016	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0010c0014 a0016c0032	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0008 a0010c0014t0003 a0016c0032t0003	a0001c0001t0001g0028 a0001c0001t0003g0058 a0002c0002t0002g0078 others(8): Show a0001c0001t0001g0028 a0001c0001t0003g0058 a0002c0002t0002g0078 a0004c0004t0003g0004 a0004c0004t0003g0031 a0004c0004t0003g0041 a0004c0004t0003g0042 a0004c0004t0005g0004 a0004c0004t0008g0043 a0010c0014t0003g0004 a0016c0032t0003g0004	24	392	0.0612	-30	c.43 others(41): Show c.4334_*4363delACACACACACACACACACACACACACACAC		CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding					3942		chr1	TogoVar
CLDN12_chr7_90398461_90420954	90411617	CTTGAATC others(23): Show CTTGAATCAACAAGGAAGTAATTGGGTCATG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(90): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0003g0015 a0001c0001t0005g0003 a0001c0001t0014g0023 a0001c0001t0020g0003 a0001c0001t0021g0043	93	414	0.2246	-30	c.-76 others(45): Show c.-76-367_-76-338delGGGTCATGTTGAATCAACAAGGAAGTAATT		CLDN12	ENSG00000157224.16	transcript	ENST00000496677.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLDN8_chr21_30209006_30221097	30210277	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	466	0.0022	-30	c.49 others(41): Show c.4941_*4970delTATATATATATATATATATATATATATACA		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3728		chr21	TogoVar
CLEC16A_chr16_10939564_11187186	11114128	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	274	0.0037	-30	c.211 others(49): Show c.2117-6466_2117-6437delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC16A_chr16_10939564_11187186	11172127	TACACAGT others(23): Show TACACAGTCACACATGCCACTGCACATGCTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	274	0.0037	-30	c.280 others(49): Show c.2806+5590_2806+5619delGCCACTGCACATGCTCACACAGTCAC ACAT		CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC1A_chr12_10064554_10103985	10087472	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	384	0.0026	-30	c.214 others(47): Show c.214+1622_214+1651delTATATATATATATATATATATATATATA TA		CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5						chr12	TogoVar
CLEC4E_chr12_8528305_8545905	8543567	TATATACC others(23): Show TATATACCCAGTAATGGGGTGGCTGGGTCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00733.hp2 others(54): Show HG00323.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG02015.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0002c0002t0009	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0007 others(10): Show a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0050 a0001c0001t0003g0061 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0011g0039 a0002c0002t0009g0016	57	442	0.1290	-30	c.-28 others(41): Show c.-2800_-2771delTTGACCCAGCCACCCCATTACTGGGTATAT		CLEC4E	ENSG00000166523.8	transcript	ENST00000299663.8	protein_coding					2663		chr12	TogoVar
CLIC4_chr1_24740447_24849321	24766473	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA19010.hp1 others(2): Show HG00423.hp2 HG00597.hp1 NA19010.hp1 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0150 others(2): Show a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0150 a0001c0001t0003g0226 a0001c0001t0003g0248	5	344	0.0145	-30	c.72+ others(47): Show c.72+20867_72+20896delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	46006097	TATATATA others(23): Show TATATATATATATATACACATGTATAAATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	340	0.0029	-30	c.63+ others(45): Show c.63+9353_63+9382delGTATTTATACATGTGTATATATATATATAT		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5						chr6	TogoVar
CLIC6_chr21_34663994_34723223	34670163	GGCGTAGA others(23): Show GGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(77): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2	a0002 a0009 a0010 others(4): Show a0002 a0009 a0010 a0011 a0012 a0013 a0014	a0002c0002 a0002c0004 a0002c0009 others(7): Show a0002c0002 a0002c0004 a0002c0009 a0002c0024 a0009c0025 a0010c0023 a0011c0022 a0012c0015 a0013c0021 a0014c0020	a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 others(26): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0042 a0002c0002t0043 a0002c0002t0061 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0004t0023 a0002c0004t0024 a0002c0009t0030 a0002c0009t0058 a0002c0024t0037 a0009c0025t0003 a0010c0023t0018 a0011c0022t0041 a0012c0015t0052 a0013c0021t0003 a0014c0020t0003	a0002c0002t0003g0007 a0002c0002t0003g0020 a0002c0002t0003g0227 others(72): Show a0002c0002t0003g0007 a0002c0002t0003g0020 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0234 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0252 a0002c0002t0003g0264 a0002c0002t0003g0273 a0002c0002t0004g0003 a0002c0002t0004g0219 a0002c0002t0004g0225 a0002c0002t0004g0233 a0002c0002t0004g0236 a0002c0002t0004g0238 a0002c0002t0004g0241 a0002c0002t0004g0244 a0002c0002t0004g0246 a0002c0002t0004g0251 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0008g0255 a0002c0002t0008g0258 a0002c0002t0008g0259 a0002c0002t0008g0261 a0002c0002t0008g0262 a0002c0002t0008g0275 a0002c0002t0008g0276 a0002c0002t0008g0277 a0002c0002t0008g0278 a0002c0002t0010g0253 a0002c0002t0015g0007 a0002c0002t0015g0229 a0002c0002t0015g0237 a0002c0002t0015g0239 a0002c0002t0018g0216 a0002c0002t0018g0272 a0002c0002t0022g0254 a0002c0002t0022g0256 a0002c0002t0026g0215 a0002c0002t0036g0007 a0002c0002t0038g0250 a0002c0002t0039g0245 a0002c0002t0040g0260 a0002c0002t0042g0232 a0002c0002t0043g0003 a0002c0002t0061g0218 a0002c0004t0003g0221 a0002c0004t0003g0223 a0002c0004t0003g0224 a0002c0004t0003g0263 a0002c0004t0008g0018 a0002c0004t0010g0220 a0002c0004t0010g0226 a0002c0004t0010g0247 a0002c0004t0023g0019 a0002c0004t0024g0235 a0002c0004t0024g0274 a0002c0009t0030g0212 a0002c0009t0030g0213 a0002c0009t0058g0211 a0002c0024t0037g0281 a0009c0025t0003g0217 a0010c0023t0018g0222 a0011c0022t0041g0267 a0012c0015t0052g0214 a0013c0021t0003g0257 a0014c0020t0003g0240	80	312	0.2564	-30	c.786 others(37): Show c.786_815delGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	p.Gly others(13): Show p.Gly263_Ala272del	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	1/6	1181/4197	786/2061	262/686		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLIC6_chr21_34663994_34723223	34718657	AAATGAAA others(23): Show AAATGAAATGAAATGAAATGAAATGAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0051 a0003c0005t0051	a0003c0005t0051g0027 a0003c0005t0051g0027	1	312	0.0032	-30	c.21 others(41): Show c.2176_*2205delAATGAAATGAAATGAAATGAAATGAAAAAC		CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding					435		chr21	TogoVar
CLIP1_chr12_122266469_122427669	122387562	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	234	0.0043	-30	c.-10 others(49): Show c.-106-7034_-106-7005delAATATATATATATATATATATATATA TATA		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLIP2_chr7_74284407_74410935	74307796	AGGTTCTT others(23): Show AGGTTCTTCATACTGGAGGCTGCTGGGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	278	0.0036	-30	c.-67 others(47): Show c.-67-9678_-67-9649delTTCATACTGGAGGCTGCTGGGGGGTGGT TC		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLMP_chr11_123064872_123200248	123118965	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	254	0.0039	-30	c.29- others(47): Show c.29-21043_29-21014delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123118969	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	254	0.0039	-30	c.29- others(47): Show c.29-21047_29-21018delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123118971	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	254	0.0039	-30	c.29- others(47): Show c.29-21049_29-21020delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123118975	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19000.hp1 HG02486.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0130 a0001c0001t0020g0245 a0001c0001t0006g0130 a0001c0001t0020g0245	2	254	0.0079	-30	c.29- others(47): Show c.29-21053_29-21024delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123119022	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01517.hp1 HG02145.hp2 others(2): Show HG01070.hp2 HG01517.hp1 HG02145.hp2 HG02683.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0021 a0001c0001t0002g0199 a0001c0001t0004g0093 others(2): Show a0001c0001t0001g0021 a0001c0001t0002g0199 a0001c0001t0004g0093 a0001c0001t0007g0160 a0001c0001t0014g0115	5	254	0.0197	-30	c.29- others(47): Show c.29-21100_29-21071delGGAGAGGGAGAGAGAGAGAGAGAGAGAG AG		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLN8_chr8_1758789_1791570	1763615	GCGCCGCG others(23): Show GCGCCGCGCCCCGCCCCCCGCCGCGCCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02723.hp1 NA18955.hp1 HG01891.hp2 HG02723.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0003g0014 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0003g0014	3	413	0.0073	-30	c.-39 others(39): Show c.-393_-364delCGCCGCGCCCCGCCCCCCGCCGCGCCCCTC		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					173		chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1328239	CACATTCC others(23): Show CACATTCCATCCAGCTCCTCCTCTACAGGAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02109.hp2 others(10): Show HG00609.hp1 HG02040.hp2 HG02109.hp2 HG02280.hp1 HG02572.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0230 others(10): Show a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237	13	370	0.0351	-30	c.108 others(49): Show c.1080+2011_1080+2040delATCCTGTAGAGGAGGAGCTGGATGGA ATGT		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16						chr5	TogoVar
CLSPN_chr1_35727112_35774978	35770438	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(23): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG02155.hp1 HG02257.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03927.hp1 HG04199.hp1 NA18906.hp2 NA18969.hp1 NA18975.hp2 NA18995.hp2 NA19056.hp2 NA19076.hp1 NA19079.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0003 a0001c0001t0017 a0007c0007t0003 a0001c0001t0003 a0001c0001t0017 a0007c0007t0003	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0014 others(16): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0184 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0017g0207 a0001c0001t0017g0208 a0007c0007t0003g0013 a0007c0007t0003g0032	26	296	0.0878	-30	c.-59 others(39): Show c.-598_-569delGTGTGTATATATATATATATATATATATAT		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding					461		chr1	TogoVar
CLSTN1_chr1_9723926_9828965	9768382	ATGGGGGC others(23): Show ATGGGGGCGGGATTCTGTGTTGGGCGGCACC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01981.hp2 NA18940.hp2 others(5): Show HG00558.hp1 HG01981.hp2 NA18940.hp2 NA18968.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0065 others(5): Show a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0066 a0003c0004t0002g0067 a0003c0004t0002g0068 a0003c0004t0002g0069 a0003c0004t0002g0070	8	270	0.0296	-30	c.214 others(47): Show c.214+4860_214+4889delGGTGCCGCCCAACACAGAATCCCGCCCC CA		CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	2/18						chr1	TogoVar
CLSTN1_chr1_9723926_9828965	9768401	TTGGGCGG others(23): Show TTGGGCGGCACCGGGGGGCGGGGTTCTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02109.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	270	0.0074	-30	c.214 others(47): Show c.214+4841_214+4870delGCACAGAACCCCGCCCCCCGGTGCCGCC CA		CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	2/18						chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140264375	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG01243.hp2 HG02615.hp1 HG02723.hp2 HG03225.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0002c0002	a0001c0001t0043 a0001c0003t0012 a0001c0006t0031 others(3): Show a0001c0001t0043 a0001c0003t0012 a0001c0006t0031 a0001c0014t0032 a0002c0002t0001 a0002c0002t0028	a0001c0001t0043g0064 a0001c0003t0012g0052 a0001c0003t0012g0053 others(4): Show a0001c0001t0043g0064 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0006t0031g0024 a0001c0014t0032g0028 a0002c0002t0001g0022 a0002c0002t0028g0005	7	110	0.0636	-30	c.232 others(49): Show c.232+88326_232+88355delTATATATATATATATATATATATATA TATA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419765	ACACGTGT others(23): Show ACACGTGTATACACGTATATACACGTATACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02809.hp1 HG01109.hp2 HG02559.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0002 a0001c0001 a0001c0018 a0002c0002	a0001c0001t0002 a0001c0018t0002 a0002c0002t0027 a0001c0001t0002 a0001c0018t0002 a0002c0002t0027	a0001c0001t0002g0105 a0001c0018t0002g0006 a0002c0002t0027g0058 a0001c0001t0002g0105 a0001c0018t0002g0006 a0002c0002t0027g0058	3	110	0.0273	-30	c.638 others(47): Show c.638-1359_638-1330delCACGTGTATACACGTATATACACGTATA CG		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16						chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419814	CGTATATA others(23): Show CGTATATATACGTATATGTGTATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0016 a0001c0001t0029g0016	1	110	0.0091	-30	c.638 others(47): Show c.638-1301_638-1272delCGTATATGTGTATATATATGTGTATATA TA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419827	ATATGTGT others(23): Show ATATGTGTATATATATGTGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01081.hp2 others(39): Show HG00621.hp1 HG00735.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG06807.hp1 NA18977.hp1 NA18977.hp2 NA19043.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0006 others(11): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0002c0002 a0002c0004 a0002c0007 a0002c0010 a0002c0022 a0002c0023 a0003c0012 a0004c0013 a0005c0011 a0006c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0003t0003 a0001c0006t0002 a0001c0006t0004 a0001c0008t0009 a0002c0002t0011 a0002c0002t0026 a0002c0004t0001 a0002c0004t0007 a0002c0004t0017 a0002c0004t0037 a0002c0004t0038 a0002c0007t0003 a0002c0010t0003 a0002c0010t0024 a0002c0022t0010 a0002c0023t0010 a0003c0012t0008 a0004c0013t0008 a0005c0011t0002 a0006c0020t0034	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0076 others(39): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0005g0026 a0001c0001t0005g0035 a0001c0001t0005g0089 a0001c0001t0006g0040 a0001c0001t0006g0055 a0001c0001t0011g0031 a0001c0001t0013g0090 a0001c0001t0014g0001 a0001c0001t0014g0032 a0001c0001t0036g0044 a0001c0001t0041g0047 a0001c0001t0042g0011 a0001c0003t0003g0080 a0001c0006t0002g0012 a0001c0006t0004g0013 a0001c0008t0009g0042 a0001c0008t0009g0100 a0002c0002t0011g0103 a0002c0002t0026g0094 a0002c0004t0001g0072 a0002c0004t0007g0067 a0002c0004t0007g0085 a0002c0004t0017g0061 a0002c0004t0037g0073 a0002c0004t0038g0108 a0002c0007t0003g0015 a0002c0007t0003g0043 a0002c0007t0003g0083 a0002c0010t0003g0109 a0002c0010t0024g0023 a0002c0022t0010g0020 a0002c0023t0010g0104 a0003c0012t0008g0014 a0003c0012t0008g0041 a0004c0013t0008g0099 a0004c0013t0008g0106 a0005c0011t0002g0087 a0005c0011t0002g0101 a0006c0020t0034g0102	42	110	0.3818	-30	c.638 others(47): Show c.638-1294_638-1265delGTGTATATATATGTGTATATATATATGT AT		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7129048	TTTCCTGA others(23): Show TTTCCTGAGGAAGGAACCTGGAGCAGGATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(389): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0022 a0002c0004 a0003c0005 a0004c0006 a0005c0009 a0006c0020 a0007c0018 a0008c0021 a0009c0014 a0010c0012 a0011c0011 a0012c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0003t0003 a0001c0008t0003 a0001c0010t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0001 a0001c0022t0002 a0002c0004t0001 a0003c0005t0001 a0003c0005t0002 a0004c0006t0001 a0005c0009t0001 a0006c0020t0004 a0007c0018t0004 a0008c0021t0003 a0009c0014t0001 a0010c0012t0001 a0011c0011t0001 a0012c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(349): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0002g0103 a0001c0001t0002g0280 a0001c0001t0002g0341 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0235 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0004g0001 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0006g0236 a0001c0001t0006g0238 a0001c0001t0008g0021 a0001c0001t0009g0226 a0001c0001t0009g0237 a0001c0001t0010g0241 a0001c0001t0011g0100 a0001c0001t0012g0157 a0001c0001t0013g0098 a0001c0001t0014g0153 a0001c0001t0016g0110 a0001c0002t0001g0017 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0111 a0001c0002t0002g0121 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0004g0203 a0001c0002t0007g0015 a0001c0002t0007g0205 a0001c0003t0003g0097 a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0008t0003g0351 a0001c0010t0001g0168 a0001c0013t0001g0154 a0001c0015t0001g0059 a0001c0016t0001g0252 a0001c0017t0001g0261 a0001c0019t0001g0298 a0001c0022t0002g0015 a0002c0004t0001g0026 a0002c0004t0001g0291 a0002c0004t0001g0294 a0002c0004t0001g0297 a0003c0005t0001g0309 a0003c0005t0002g0317 a0003c0005t0002g0343 a0003c0005t0002g0344 a0004c0006t0001g0012 a0005c0009t0001g0318 a0006c0020t0004g0234 a0007c0018t0004g0187 a0008c0021t0003g0228 a0009c0014t0001g0186 a0010c0012t0001g0031 a0011c0011t0001g0113 a0012c0007t0001g0273	392	394	0.9949	-30	c.-16 others(41): Show c.-1600_-1571delTTCCTGAGGAAGGAACCTGGAGCAGGATCC		CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding					1322		chr12	TogoVar
CLUH_chr17_2684387_2716764	2691920	GGCCCCCC others(23): Show GGCCCCCCCGTGCCCCCGCGGCCCCGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18612.hp2 NA18959.hp1 HG03209.hp2 NA18612.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0001 a0001c0004t0003 a0002c0002t0001	a0001c0004t0003g0055 a0002c0002t0001g0105 a0002c0002t0001g0117 a0001c0004t0003g0055 a0002c0002t0001g0105 a0002c0002t0001g0117	3	420	0.0071	-30	c.365 others(45): Show c.3654+54_3655-26delGGGGGCGGGGCCGCGGGGGCACGGGGGGGC		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CMAS_chr12_22041218_22070668	22053644	CCGAGACG others(23): Show CCGAGACGGGCGGATCACGAGGTCAGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	450	0.0022	-30	c.261 others(47): Show c.261-1498_261-1469delGGGCGGATCACGAGGTCAGGAGATCGAG AC		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC2_chr16_80961448_81011885	80965194	AAAAAAAA others(23): Show AAAAAAAACATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0293 a0002c0002t0003g0293	1	408	0.0025	-30	c.10 others(43): Show c.10869_*10898delATATATATATATATATATATATGTTTTTTT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1253		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965196	AAAAAACA others(23): Show AAAAAACATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0021	1	408	0.0025	-30	c.10 others(43): Show c.10867_*10896delATATATATATATATATATATATATGTTTTT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1251		chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172742	AGGGAGAG others(23): Show AGGGAGAGGGAGAGGGAGACGGGAGAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02015.hp1 HG02165.hp1 others(3): Show HG01123.hp2 HG02015.hp1 HG02165.hp1 HG02257.hp2 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0003 a0001c0001t0001 a0002c0002t0001 a0002c0003t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0134 a0002c0003t0003g0077	6	322	0.0186	-30	c.34 others(41): Show c.3408_*3437delCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2573		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172972	GAGGGAGA others(23): Show GAGGGAGAGGGAGACGGGAGAGGGAGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	322	0.0031	-30	c.31 others(41): Show c.3178_*3207delTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2343		chr2	TogoVar
CMPK1_chr1_47328790_47383839	47340015	TCCCTCCC others(23): Show TCCCTCCCCTCCCCTTCCCTTCCCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	364	0.0028	-30	c.171 others(47): Show c.171+5914_171+5943delTCCCTTCCCTCCCCTCCCCTCCCCTCCC CT		CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CMSS1_chr3_99812862_100186732	99983416	ATATGTAT others(23): Show ATATGTATGTATGTATGTATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp2 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0165 a0001c0001t0004g0164 a0001c0001t0001g0165 a0001c0001t0004g0164	2	232	0.0086	-30	c.65- others(49): Show c.65-163553_65-163524delGTATGTATGTATGTATATATATGTAT GTAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983460	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	232	0.0043	-30	c.65- others(49): Show c.65-163511_65-163482delGTGTATATATATATATATATATATAT ATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021934	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	232	0.0043	-30	c.65- others(49): Show c.65-125037_65-125008delTGTGTGTGTGTGTGTGTGTGTGTGTG AGAG		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66633086	AAAATATA others(23): Show AAAATATATATATATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp2 others(40): Show HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp2 HG02027.hp1 HG02145.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG03225.hp1 HG03491.hp2 HG03516.hp2 HG03669.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18950.hp1 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18986.hp2 NA18989.hp2 NA18998.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0015 a0001c0002t0027 a0001c0003t0002 a0001c0003t0025 a0001c0003t0044 a0001c0006t0026	a0001c0001t0001g0218 a0001c0002t0002g0024 a0001c0002t0002g0025 others(40): Show a0001c0001t0001g0218 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0009g0298 a0001c0002t0009g0299 a0001c0002t0009g0300 a0001c0002t0009g0310 a0001c0002t0015g0044 a0001c0002t0015g0045 a0001c0002t0027g0040 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0025g0011 a0001c0003t0044g0318 a0001c0006t0026g0053	43	320	0.1344	-30	c.363 others(47): Show c.363+3289_363+3318delATATATATATATATTTATATATATATAT TT		CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3						chr16	TogoVar
CMTM7_chr3_32386853_32460528	32412480	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(78): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18991.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0051 others(75): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0002g0064 a0001c0001t0002g0088 a0001c0001t0002g0140 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0004g0301 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0142 a0001c0001t0006g0309 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0087 a0001c0001t0012g0065 a0001c0001t0015g0139 a0001c0002t0004g0010	81	368	0.2201	-30	c.159 others(49): Show c.159+20446_159+20475delACACACACACACACACACACACACAC ACAC		CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(104): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0002 a0004 a0007 others(21): Show a0002 a0004 a0007 a0013 a0014 a0019 a0020 a0021 a0027 a0028 a0029 a0032 a0042 a0043 a0044 a0046 a0047 a0052 a0053 a0055 a0056 a0057 a0058 a0072	a0002c0002 a0002c0020 a0002c0106 others(29): Show a0002c0002 a0002c0020 a0002c0106 a0002c0114 a0004c0006 a0004c0011 a0004c0014 a0007c0008 a0007c0097 a0013c0016 a0014c0027 a0014c0045 a0019c0024 a0020c0025 a0021c0026 a0027c0042 a0028c0043 a0029c0044 a0032c0109 a0032c0110 a0042c0029 a0043c0094 a0044c0093 a0046c0098 a0047c0105 a0052c0102 a0053c0101 a0055c0113 a0056c0112 a0057c0111 a0058c0092 a0072c0071	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(46): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0020t0001 a0002c0020t0002 a0002c0106t0007 a0002c0114t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0011t0001 a0004c0011t0002 a0004c0011t0003 a0004c0014t0002 a0007c0008t0001 a0007c0008t0002 a0007c0008t0004 a0007c0008t0011 a0007c0097t0002 a0013c0016t0001 a0013c0016t0003 a0013c0016t0004 a0013c0016t0007 a0014c0027t0001 a0014c0027t0002 a0014c0027t0003 a0014c0045t0002 a0019c0024t0001 a0020c0025t0001 a0021c0026t0001 a0021c0026t0002 a0027c0042t0001 a0028c0043t0001 a0029c0044t0004 a0029c0044t0012 a0032c0109t0002 a0032c0110t0002 a0042c0029t0001 a0043c0094t0002 a0044c0093t0001 a0046c0098t0005 a0047c0105t0001 a0052c0102t0002 a0053c0101t0001 a0055c0113t0001 a0056c0112t0001 a0057c0111t0002 a0058c0092t0003 a0072c0071t0002	a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0127 others(104): Show a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0147 a0002c0002t0001g0173 a0002c0002t0001g0222 a0002c0002t0001g0253 a0002c0002t0001g0324 a0002c0002t0001g0331 a0002c0002t0002g0054 a0002c0002t0002g0061 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0112 a0002c0002t0002g0130 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0229 a0002c0002t0002g0238 a0002c0002t0002g0288 a0002c0002t0002g0334 a0002c0002t0002g0354 a0002c0002t0006g0120 a0002c0002t0006g0164 a0002c0020t0001g0117 a0002c0020t0002g0121 a0002c0020t0002g0190 a0002c0020t0002g0293 a0002c0106t0007g0029 a0002c0114t0001g0196 a0004c0006t0001g0048 a0004c0006t0001g0078 a0004c0006t0001g0256 a0004c0006t0001g0304 a0004c0006t0002g0055 a0004c0006t0002g0144 a0004c0006t0002g0210 a0004c0006t0002g0249 a0004c0006t0002g0303 a0004c0006t0003g0236 a0004c0006t0003g0258 a0004c0011t0001g0160 a0004c0011t0001g0206 a0004c0011t0001g0233 a0004c0011t0001g0277 a0004c0011t0002g0049 a0004c0011t0003g0251 a0004c0011t0003g0349 a0004c0014t0002g0040 a0004c0014t0002g0119 a0004c0014t0002g0158 a0004c0014t0002g0195 a0004c0014t0002g0227 a0004c0014t0002g0244 a0007c0008t0001g0138 a0007c0008t0001g0168 a0007c0008t0001g0311 a0007c0008t0001g0340 a0007c0008t0002g0179 a0007c0008t0002g0301 a0007c0008t0002g0308 a0007c0008t0004g0030 a0007c0008t0004g0032 a0007c0008t0011g0341 a0007c0097t0002g0347 a0013c0016t0001g0180 a0013c0016t0003g0307 a0013c0016t0004g0019 a0013c0016t0007g0024 a0013c0016t0007g0315 a0014c0027t0001g0052 a0014c0027t0002g0053 a0014c0027t0003g0051 a0014c0045t0002g0194 a0014c0045t0002g0230 a0019c0024t0001g0184 a0020c0025t0001g0344 a0021c0026t0001g0089 a0021c0026t0001g0189 a0021c0026t0002g0252 a0027c0042t0001g0134 a0027c0042t0001g0342 a0028c0043t0001g0183 a0028c0043t0001g0267 a0029c0044t0004g0026 a0029c0044t0012g0036 a0032c0109t0002g0231 a0032c0110t0002g0074 a0042c0029t0001g0109 a0043c0094t0002g0011 a0044c0093t0001g0276 a0046c0098t0005g0259 a0047c0105t0001g0042 a0052c0102t0002g0211 a0053c0101t0001g0202 a0055c0113t0001g0151 a0056c0112t0001g0072 a0057c0111t0002g0321 a0058c0092t0003g0263 a0072c0071t0002g0191	107	358	0.2989	-30	c.106 others(51): Show c.10639-1756_10639-1727delCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87190867	ATAGATAT others(23): Show ATAGATATAGATACATGTACGTATATCTATT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02486.hp1 others(10): Show HG01069.hp1 HG01243.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0002g0003 a0001c0001t0002g0069 a0001c0001t0003g0111 a0004c0003t0002g0007	13	152	0.0855	-30	c.432 others(49): Show c.432-15116_432-15087delATACATGTACGTATATCTATTTAGAT ATAG		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar

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