Joint Open Genome and Omics Platform (JoGo)

Search Results

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
CLUH_chr17_2684387_2716764	2691952	CCCCGCCA others(13): Show CCCCGCCACGCCCCCGCCCCG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19081.hp1 NA18948.hp1 NA19081.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0152 a0004c0009t0001g0186 a0004c0009t0001g0152 a0004c0009t0001g0186	2	420	0.0048	-20	c.365 others(35): Show c.3654+32_3654+51delCGGGGCGGGGGCGTGGCGGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CLUL1_chr18_591988_655182	645810	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02559.hp2 HG02970.hp2 others(1): Show HG01074.hp2 HG02559.hp2 HG02970.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0268 a0001c0001t0001g0382 a0001c0001t0002g0318 others(1): Show a0001c0001t0001g0268 a0001c0001t0001g0382 a0001c0001t0002g0318 a0001c0001t0003g0011	4	414	0.0097	-20	c.139 others(37): Show c.1397+736_1397+755delATATATATATATATATATAT		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27593372	AGTTACGT others(13): Show AGTTACGTTACGTTACGTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02723.hp1 HG01069.hp2 HG01071.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0116 a0001c0001t0004g0004 a0001c0001t0001g0116 a0001c0001t0004g0004	3	458	0.0066	-20	c.48 others(31): Show c.4849_*4868delGTAACGTAACGTAACGTAAC		CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding					3544		chr8	TogoVar
CLVS1_chr8_61282970_61506629	61347626	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01192.hp1 others(8): Show HG00733.hp2 HG00738.hp1 HG01192.hp1 HG01496.hp1 HG01952.hp2 HG01993.hp2 HG02738.hp2 HG03579.hp1 NA18960.hp2 NA18968.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0158 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0112 a0001c0001t0002g0132 a0001c0001t0002g0147 a0001c0001t0003g0115 a0001c0001t0010g0111 a0001c0001t0011g0177	11	184	0.0598	-20	c.456 others(39): Show c.456-28941_456-28922delATATATATATATATATATAT		CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS1_chr8_61282970_61506629	61416305	GATACATA others(13): Show GATACATACATACATACATAC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp1 HG02738.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0167 a0001c0001t0002g0132 a0001c0001t0002g0167	2	184	0.0109	-20	c.631 others(39): Show c.631-37804_631-37785delCATACATACATACATACATA		CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123075281	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(12): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00639.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG02965.hp1 HG02976.hp2 HG03704.hp1 HG04115.hp1 NA18981.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0027 a0001c0001t0062 a0001c0001t0073	a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 others(12): Show a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0003g0122 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0141 a0001c0001t0012g0056 a0001c0001t0020g0031 a0001c0001t0020g0281 a0001c0001t0027g0166 a0001c0001t0027g0168 a0001c0001t0062g0143 a0001c0001t0073g0246	15	336	0.0446	-20	c.11 others(33): Show c.11521_*11540delTTTCTTTCTTTCTTTCTTTC		CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding					2357		chr6	TogoVar
CLYBL_chr13_99601690_99897570	99676186	GTCCTTCC others(13): Show GTCCTTCCTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG02717.hp2 others(2): Show HG01106.hp1 HG01433.hp1 HG02717.hp2 HG02735.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0115 a0002c0002t0001g0113 a0002c0002t0001g0116	5	218	0.0229	-20	c.62+ others(37): Show c.62+69463_62+69482delCCTTCCTTCCTTCCTTCCTT		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99711904	ACAGGATT others(13): Show ACAGGATTTCACCATCTTGGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01517.hp1 others(8): Show HG01069.hp1 HG01192.hp1 HG01517.hp1 HG02055.hp2 HG03239.hp1 HG03669.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA19002.hp1 NA19064.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0169 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0205 a0002c0002t0001g0096 a0003c0003t0001g0186	11	218	0.0505	-20	c.63- others(37): Show c.63-60915_63-60896delATTTCACCATCTTGGCCAGG		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG01243.hp2 HG02486.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0088 a0007c0010t0001g0073 a0001c0001t0001g0088 a0007c0010t0001g0073	2	218	0.0092	-20	c.63- others(37): Show c.63-56636_63-56617delTTTTTTTTTTTTTTTTTTTT		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG03453.hp1 others(1): Show HG02630.hp2 HG03098.hp1 HG03453.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0069 a0002c0002t0001g0111	4	218	0.0184	-20	c.250 others(39): Show c.250-39412_250-39393delTATATATATATATATATATA		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22041963	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01070.hp1 others(48): Show HG00099.hp1 HG00639.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG02040.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18952.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18985.hp2 NA18993.hp2 NA19009.hp2 NA19012.hp2 NA19060.hp1 NA19070.hp2 NA19088.hp1 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0003g0027 a0001c0001t0005g0038	51	450	0.1133	-20	c.-43 others(31): Show c.-4340_-4321delAAAAAAAAAAAAAAAAAAAG		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding					4254		chr12	TogoVar
CMBL_chr5_10272595_10312902	10308196	GTTTATTT others(13): Show GTTTATTTTATTTTATTTTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(161): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19080.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0033 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0045 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0003g0020 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0021 a0001c0001t0004g0043 a0001c0001t0004g0079 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0152 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0213 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0230 a0001c0001t0004g0236 a0001c0001t0005g0243 a0001c0001t0007g0036 a0001c0001t0007g0229 a0001c0001t0008g0091 a0001c0001t0010g0222 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0016g0076 a0001c0001t0016g0097 a0001c0001t0018g0100 a0001c0001t0029g0207 a0001c0001t0031g0228 a0001c0001t0035g0234 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0037 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0215 a0001c0002t0002g0232 a0001c0002t0002g0241 a0001c0002t0002g0245 a0001c0002t0003g0013 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0046 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0195 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0006g0210 a0001c0002t0006g0211 a0001c0002t0006g0216 a0001c0002t0006g0220 a0001c0002t0009g0212 a0001c0002t0009g0214 a0001c0002t0009g0221 a0001c0002t0012g0017 a0001c0002t0013g0060 a0001c0002t0013g0063 a0001c0002t0014g0058 a0001c0002t0017g0233 a0001c0002t0020g0123 a0001c0002t0021g0231 a0001c0002t0022g0235 a0001c0002t0025g0225 a0001c0002t0033g0050 a0001c0003t0002g0019 a0001c0003t0002g0048 a0001c0003t0002g0062 a0001c0003t0002g0096	164	350	0.4686	-20	c.-61 others(29): Show c.-611_-592delATAAAATAAAATAAAATAAA		CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding					295		chr5	TogoVar
CMC1_chr3_28236619_28330142	28300690	TCCCTTTC others(13): Show TCCCTTTCCCTCCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00738.hp2 others(49): Show HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02273.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp1 HG03688.hp2 NA18522.hp1 NA18747.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18967.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040	a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0152 others(43): Show a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0003g0309 a0001c0001t0003g0319 a0001c0001t0007g0143 a0001c0001t0007g0147 a0001c0001t0034g0141 a0001c0001t0035g0019 a0001c0001t0036g0153 a0001c0001t0040g0131	52	338	0.1539	-20	c.110 others(39): Show c.110-15641_110-15622delCCTTTCCCTCCCTCTCACCC		CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMIP_chr16_81439808_81716762	81493350	GCGTTACC others(13): Show GCGTTACCTGTCGTTACCTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	268	0.0037	-20	c.300 others(39): Show c.300+47830_300+47849delCGTTACCTGTCGTTACCTGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500345	CCCTCTCT others(13): Show CCCTCTCTCCTTTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp2 others(50): Show HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03540.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18973.hp2 NA18975.hp1 NA18982.hp1 NA18990.hp2 NA18995.hp2 NA19009.hp1 NA19010.hp1 NA19060.hp2 NA19081.hp2 NA19082.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0002c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0258 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0003g0266 a0001c0001t0004g0007 a0001c0001t0004g0067 a0001c0001t0004g0103 a0001c0001t0005g0023 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0096 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0078 a0001c0001t0008g0081 a0001c0001t0008g0092 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0010g0006 a0001c0001t0012g0114 a0001c0001t0016g0217 a0001c0001t0017g0070 a0001c0001t0018g0017 a0001c0001t0018g0080 a0001c0001t0020g0001 a0001c0001t0026g0113 a0001c0001t0027g0101 a0001c0001t0028g0083 a0001c0001t0032g0156 a0001c0001t0048g0074 a0001c0001t0049g0091 a0001c0001t0050g0082 a0002c0004t0001g0259	53	268	0.1978	-20	c.300 others(39): Show c.300+54829_300+54848delTCTCCTTTCCTCCCTTCCTC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81540643	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	268	0.0037	-20	c.301 others(39): Show c.301-66901_301-66882delGTGTGTGTGTGTGTGTGTGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81550832	TCCCCAGT others(13): Show TCCCCAGTTCCATCACACACA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG03139.hp1 others(1): Show HG02559.hp1 HG02630.hp2 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0125 a0001c0001t0002g0212 a0001c0001t0004g0159 others(1): Show a0001c0001t0001g0125 a0001c0001t0002g0212 a0001c0001t0004g0159 a0001c0001t0004g0174	4	268	0.0149	-20	c.301 others(39): Show c.301-56684_301-56665delATCACACACACCCCAGTTCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81550950	ACACCCCA others(13): Show ACACCCCAGTCCCGTCACACG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0125 a0001c0001t0004g0159 a0001c0001t0001g0125 a0001c0001t0004g0159	2	268	0.0075	-20	c.301 others(39): Show c.301-56567_301-56548delCCCGTCACACGCACCCCAGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81551022	ATCACACG others(13): Show ATCACACGCACCCCAGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	268	0.0037	-20	c.301 others(39): Show c.301-56488_301-56469delCCCGTCACACGCACCCCAGT		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81648784	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0264 a0001c0001t0023g0264	1	268	0.0037	-20	c.478 others(37): Show c.478-3402_478-3383delAAAAAAAAAAAAAAAAAAAA		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667766	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	268	0.0037	-20	c.826 others(37): Show c.826-2361_826-2342delAGAGAGAGAGAGAGAGAGAG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667787	AGAGAGAG others(13): Show AGAGAGAGAGAGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp2 NA18983.hp1 HG01257.hp2 HG01928.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0003g0090 a0001c0001t0003g0143 a0001c0001t0001g0062 a0001c0001t0003g0090 a0001c0001t0003g0143	3	268	0.0112	-20	c.826 others(37): Show c.826-2353_826-2334delAGAGAGAGAGAGTGTGTGTG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667793	AGAGAGAG others(13): Show AGAGAGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0148 a0001c0001t0013g0148	1	268	0.0037	-20	c.826 others(37): Show c.826-2347_826-2328delAGAGAGTGTGTGTGTGTGTG		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81669631	TCCTTCCA others(13): Show TCCTTCCACACCCACCTCACA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18973.hp2 NA19009.hp1 NA18960.hp2 NA18973.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0207 a0001c0001t0002g0240 a0001c0001t0001g0077 a0001c0001t0002g0207 a0001c0001t0002g0240	3	268	0.0112	-20	c.826 others(35): Show c.826-489_826-470delCTTCCACACCCACCTCACAC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704462	TACCCTCC others(13): Show TACCCTCCTCCCTGCCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01109.hp2 others(28): Show HG00621.hp1 HG00741.hp2 HG01109.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03098.hp2 HG03225.hp2 HG03654.hp1 HG03704.hp2 NA18612.hp2 NA18945.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA19011.hp1 NA19057.hp2 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046	a0001c0001t0001g0004 a0001c0001t0001g0247 a0001c0001t0002g0228 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0247 a0001c0001t0002g0228 a0001c0001t0004g0011 a0001c0001t0005g0023 a0001c0001t0005g0036 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0054 a0001c0001t0005g0096 a0001c0001t0006g0104 a0001c0001t0006g0185 a0001c0001t0007g0226 a0001c0001t0007g0229 a0001c0001t0007g0239 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0014g0128 a0001c0001t0014g0267 a0001c0001t0018g0017 a0001c0001t0018g0080 a0001c0001t0021g0157 a0001c0001t0022g0181 a0001c0001t0036g0224 a0001c0001t0038g0238 a0001c0001t0042g0233 a0001c0001t0044g0214 a0001c0001t0046g0180	31	268	0.1157	-20	c.209 others(37): Show c.2091+407_2091+426delCCTGCCCCCTCACCCTCCTC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704699	GTCACCCT others(13): Show GTCACCCTCCTCCCTGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG01884.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0192 a0001c0002t0004g0162 a0001c0002t0001g0192 a0001c0002t0004g0162	2	268	0.0075	-20	c.209 others(37): Show c.2091+634_2091+653delCTCACCCTCCTCCCTGCCCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172704	ACGGGAGA others(13): Show ACGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	322	0.0031	-20	c.34 others(31): Show c.3456_*3475delGTCTCCCTCTCCCTCTCCCG		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2611		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172705	CGGGAGAG others(13): Show CGGGAGAGGGAGAGGGAGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	322	0.0031	-20	c.34 others(31): Show c.3455_*3474delCGTCTCCCTCTCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2610		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206177196	CATAGGAA others(13): Show CATAGGAATAGTTTTCAAATT	C C	frameshift_variant frameshift_variant	HIGH	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0013 a0010c0012t0001g0013	1	322	0.0031	-20	c.32_ others(25): Show c.32_51delAATTTGAAAACTATTCCTAT	p.Glu others(4): Show p.Glu11fs	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	2/2	144/2025	32/1068	11/355			chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206179055	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp1 HG01258.hp1 others(1): Show HG00280.hp2 HG01256.hp1 HG01258.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0200	4	322	0.0124	-20	c.-28 others(37): Show c.-28-1800_-28-1781delAAAAAAAAAAAAAAAAAAAA		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1						chr2	TogoVar
CMSS1_chr3_99812862_100186732	99856098	GCTGCTCT others(13): Show GCTGCTCTGCTCTGCTCTGCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG03471.hp2 HG01891.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0009 a0001c0001t0018	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0018g0002 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0018g0002	3	232	0.0129	-20	c.64+ others(37): Show c.64+38079_64+38098delCTCTGCTCTGCTCTGCTCTG		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021952	TGTGTGTG others(13): Show TGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG02015.hp2 others(11): Show HG00280.hp1 HG01123.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02129.hp1 HG02735.hp1 HG03942.hp1 NA18954.hp1 NA18969.hp1 NA18972.hp2 NA19007.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0102 a0001c0001t0002g0086 a0001c0001t0002g0090 others(11): Show a0001c0001t0001g0102 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0002c0002t0003g0112	14	232	0.0603	-20	c.65- others(39): Show c.65-125019_65-125000delTGTGTGTGAGAGAGAGAGAG		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021954	TGTGTGTG others(13): Show TGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02074.hp2 others(4): Show HG00423.hp2 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 NA19065.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 others(4): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089	7	232	0.0302	-20	c.65- others(39): Show c.65-125017_65-124998delTGTGTGAGAGAGAGAGAGAG		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115575	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02257.hp1 others(8): Show HG00741.hp2 HG01433.hp2 HG02257.hp1 HG02559.hp1 HG02738.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0003	a0001c0001t0001g0132 a0001c0001t0002g0049 a0001c0001t0002g0050 others(8): Show a0001c0001t0001g0132 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0010g0055 a0001c0001t0010g0056 a0002c0002t0003g0134 a0002c0002t0003g0138 a0002c0002t0003g0141	11	232	0.0474	-20	c.65- others(37): Show c.65-31364_65-31345delCTCTCTCTCTCTCTCTCTCT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66683174	TACATATG others(13): Show TACATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00733.hp1 others(24): Show HG00280.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01255.hp1 HG01256.hp2 HG01952.hp1 HG02027.hp2 HG02735.hp1 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18953.hp2 NA18978.hp1 NA18981.hp2 NA18995.hp2 NA19000.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 a0001c0001t0041	a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0250 others(23): Show a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0250 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0004g0056 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0024g0316 a0001c0001t0024g0317 a0001c0001t0041g0288	27	320	0.0844	-20	c.186 others(39): Show c.186+13146_186+13165delGTATATATATATACATATGT		CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3						chr16	TogoVar
CMTM7_chr3_32386853_32460528	32412480	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18951.hp2 HG01261.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0258 a0001c0001t0001g0149 a0001c0001t0001g0258	2	368	0.0054	-20	c.159 others(39): Show c.159+20456_159+20475delACACACACACACACACACAC		CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79692380	TGATATAT others(13): Show TGATATATATAATTATCTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(104): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0016 a0017 a0019 a0020 a0022 a0023 a0024 a0028 a0030 a0031 a0033 a0035 a0039 a0044 a0047 a0050 a0051 a0054 a0055 a0058 a0060 a0061 a0063 a0067 a0071 a0074 a0081	a0001c0001 a0001c0013 a0001c0033 others(46): Show a0001c0001 a0001c0013 a0001c0033 a0002c0002 a0002c0020 a0003c0003 a0004c0006 a0004c0011 a0004c0014 a0005c0005 a0005c0089 a0006c0004 a0007c0008 a0008c0007 a0008c0067 a0009c0009 a0010c0010 a0011c0012 a0011c0052 a0013c0016 a0016c0018 a0017c0019 a0019c0024 a0020c0025 a0022c0021 a0023c0022 a0024c0082 a0024c0084 a0028c0043 a0030c0095 a0030c0096 a0031c0046 a0033c0039 a0035c0037 a0039c0030 a0044c0093 a0047c0105 a0050c0104 a0051c0100 a0054c0108 a0055c0113 a0058c0092 a0060c0051 a0061c0053 a0063c0064 a0067c0059 a0071c0054 a0074c0078 a0081c0091	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0013t0006 a0001c0033t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0020t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0004c0006t0001 a0004c0006t0002 a0004c0011t0001 a0004c0011t0003 a0004c0014t0002 a0005c0005t0001 a0005c0005t0002 a0005c0089t0001 a0006c0004t0001 a0006c0004t0006 a0007c0008t0001 a0007c0008t0002 a0008c0007t0002 a0008c0067t0001 a0009c0009t0001 a0009c0009t0002 a0009c0009t0014 a0010c0010t0001 a0011c0012t0001 a0011c0012t0002 a0011c0052t0001 a0013c0016t0001 a0013c0016t0003 a0016c0018t0001 a0016c0018t0002 a0017c0019t0001 a0019c0024t0001 a0020c0025t0001 a0022c0021t0001 a0022c0021t0002 a0022c0021t0006 a0023c0022t0001 a0024c0082t0001 a0024c0084t0001 a0028c0043t0001 a0030c0095t0003 a0030c0096t0001 a0031c0046t0001 a0031c0046t0002 a0033c0039t0001 a0035c0037t0001 a0039c0030t0002 a0044c0093t0001 a0047c0105t0001 a0050c0104t0003 a0051c0100t0002 a0054c0108t0001 a0055c0113t0001 a0058c0092t0003 a0060c0051t0001 a0061c0053t0001 a0063c0064t0002 a0067c0059t0001 a0071c0054t0002 a0074c0078t0001 a0081c0091t0005	a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0163 others(104): Show a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0002g0142 a0001c0001t0002g0175 a0001c0001t0002g0294 a0001c0013t0001g0154 a0001c0013t0006g0140 a0001c0033t0002g0286 a0002c0002t0001g0147 a0002c0002t0001g0173 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0288 a0002c0002t0002g0354 a0002c0002t0006g0164 a0002c0020t0002g0293 a0003c0003t0001g0153 a0003c0003t0001g0178 a0003c0003t0001g0188 a0003c0003t0002g0149 a0003c0003t0002g0167 a0003c0003t0002g0290 a0003c0003t0003g0352 a0004c0006t0001g0304 a0004c0006t0002g0144 a0004c0006t0002g0303 a0004c0011t0001g0160 a0004c0011t0001g0277 a0004c0011t0003g0349 a0004c0014t0002g0158 a0005c0005t0001g0270 a0005c0005t0001g0353 a0005c0005t0002g0170 a0005c0089t0001g0348 a0006c0004t0001g0152 a0006c0004t0001g0161 a0006c0004t0001g0162 a0006c0004t0006g0156 a0007c0008t0001g0168 a0007c0008t0002g0179 a0007c0008t0002g0301 a0008c0007t0002g0145 a0008c0067t0001g0305 a0009c0009t0001g0264 a0009c0009t0001g0357 a0009c0009t0002g0265 a0009c0009t0002g0268 a0009c0009t0014g0266 a0010c0010t0001g0262 a0010c0010t0001g0291 a0011c0012t0001g0261 a0011c0012t0001g0287 a0011c0012t0001g0306 a0011c0012t0002g0273 a0011c0012t0002g0350 a0011c0052t0001g0284 a0013c0016t0001g0180 a0013c0016t0003g0307 a0016c0018t0001g0169 a0016c0018t0001g0176 a0016c0018t0002g0146 a0016c0018t0002g0283 a0017c0019t0001g0280 a0017c0019t0001g0295 a0019c0024t0001g0181 a0019c0024t0001g0184 a0020c0025t0001g0278 a0022c0021t0001g0300 a0022c0021t0002g0302 a0022c0021t0006g0351 a0023c0022t0001g0185 a0024c0082t0001g0297 a0024c0084t0001g0172 a0028c0043t0001g0183 a0028c0043t0001g0267 a0030c0095t0003g0271 a0030c0096t0001g0274 a0031c0046t0001g0186 a0031c0046t0002g0182 a0033c0039t0001g0279 a0035c0037t0001g0177 a0039c0030t0002g0269 a0044c0093t0001g0276 a0047c0105t0001g0042 a0050c0104t0003g0272 a0051c0100t0002g0356 a0054c0108t0001g0187 a0055c0113t0001g0151 a0058c0092t0003g0263 a0060c0051t0001g0298 a0061c0053t0001g0155 a0063c0064t0002g0282 a0067c0059t0001g0299 a0071c0054t0002g0275 a0074c0078t0001g0289 a0081c0091t0005g0038	107	358	0.2989	-20	c.149 others(37): Show c.149+2326_149+2345delATATATATAATTATCTATAG		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79748520	CCTATCTA others(13): Show CCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02717.hp1 others(3): Show HG02109.hp2 HG02559.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp1	a0012 a0012	a0012c0015 a0012c0074 a0012c0015 a0012c0074	a0012c0015t0004 a0012c0015t0016 a0012c0074t0001 a0012c0015t0004 a0012c0015t0016 a0012c0074t0001	a0012c0015t0004g0022 a0012c0015t0004g0023 a0012c0015t0004g0028 others(3): Show a0012c0015t0004g0022 a0012c0015t0004g0023 a0012c0015t0004g0028 a0012c0015t0004g0033 a0012c0015t0016g0318 a0012c0074t0001g0345	6	358	0.0168	-20	c.109 others(41): Show c.10991+1420_10991+1439delCTATCTATCTATCTATCTAT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87055883	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02922.hp2 others(1): Show HG01069.hp1 HG01243.hp2 HG02922.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0003g0111	4	152	0.0263	-20	c.431 others(41): Show c.431+116174_431+116193delTTCCTTCCTTCCTTCCTTCC		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256001	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	152	0.0066	-20	c.771 others(39): Show c.771+18891_771+18910delATATATATATATATTTTTTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02683.hp2 HG02630.hp1 HG02683.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0045 a0006c0009t0001g0089 a0001c0001t0001g0045 a0006c0009t0001g0089	2	152	0.0132	-20	c.772 others(37): Show c.772-3095_772-3076delTATATATATATATATATATA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129164210	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	430	0.0023	-20	c.62 others(31): Show c.6223_*6242delTTTTTTTTTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding					3616		chr3	TogoVar
CNBP_chr3_129162827_129188896	129172608	ACAGGCAG others(13): Show ACAGGCAGACAGGCAGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(25): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG03471.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 NA18941.hp2 NA18960.hp1 NA18964.hp1 NA18973.hp1 NA18978.hp1 NA18986.hp1 NA19004.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0067 others(22): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0220 a0001c0001t0001g0305 a0001c0001t0001g0331 a0001c0001t0002g0013 a0001c0001t0002g0112 a0001c0001t0003g0086 a0001c0001t0003g0145 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0004g0174 a0001c0001t0007g0062 a0001c0001t0007g0080 a0001c0001t0014g0048	28	430	0.0651	-20	c.-14 others(35): Show c.-14-857_-14-838delCCTGGCTGCCTGTCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129172656	GCAGACAG others(13): Show GCAGACAGACAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp2 NA18950.hp1 others(1): Show HG02015.hp2 HG02165.hp2 NA18950.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0013 a0001c0002t0005 a0001c0002t0013	a0001c0002t0005g0290 a0001c0002t0005g0338 a0001c0002t0005g0340 others(1): Show a0001c0002t0005g0290 a0001c0002t0005g0338 a0001c0002t0005g0340 a0001c0002t0013g0351	4	430	0.0093	-20	c.-14 others(35): Show c.-14-905_-14-886delTCTGTCTGTCTGTCTGTCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNDP1_chr18_74529500_74592212	74579188	TCCTTCCC others(13): Show TCCTTCCCTTCCCTTGCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	390	0.0026	-20	c.116 others(37): Show c.1167+876_1167+895delGCCTTCCCTTCCCTTCCCTT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA1_chr4_47930977_48021681	47974068	CTAGATAG others(13): Show CTAGATAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG02922.hp2 others(4): Show HG01884.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03453.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0265 a0001c0001t0005g0009 a0001c0001t0005g0010 others(2): Show a0001c0001t0001g0265 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0203 a0001c0001t0005g0342	7	366	0.0191	-20	c.-15 others(37): Show c.-15+7305_-15+7324delTCTATCTATCTATCTATCTA		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	47976323	GTATATAT others(13): Show GTATATATATATATACACATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG01517.hp2 others(1): Show HG00323.hp2 HG01361.hp2 HG01517.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0011 a0001c0001t0001g0217 a0001c0001t0001g0232	4	366	0.0109	-20	c.-15 others(37): Show c.-15+5050_-15+5069delTATGTGTATATATATATATA		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA4_chr11_6234089_6249479	6244585	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp2 others(58): Show HG00140.hp1 HG00280.hp2 HG00558.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02257.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG04204.hp1 NA18747.hp2 NA18945.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18977.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19076.hp1 NA19078.hp1 NA19083.hp1 NA19085.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0016 a0007c0009 others(1): Show a0001c0001 a0001c0016 a0007c0009 a0013c0013	a0001c0001t0001 a0001c0016t0001 a0007c0009t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0007c0009t0001 a0013c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0016t0001g0003 a0007c0009t0001g0003 a0013c0013t0001g0003	61	412	0.1481	-20	c.17 others(29): Show c.177_*196delACACACACACACACACACAC		CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding					107		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57885505	CTTTCCTT others(13): Show CTTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG02717.hp1 HG03130.hp2	a0028 a0047 a0028 a0047	a0028c0084 a0047c0111 a0028c0084 a0047c0111	a0028c0084t0003 a0047c0111t0003 a0028c0084t0003 a0047c0111t0003	a0028c0084t0003g0330 a0047c0111t0003g0327 a0028c0084t0003g0330 a0047c0111t0003g0327	2	360	0.0056	-20	c.346 others(39): Show c.3463-1068_3463-1049delAAAGGAAGGAAGGAAGGAAA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57896713	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0346 a0004c0014t0005g0346	1	360	0.0028	-20	c.324 others(37): Show c.3242+664_3242+683delATTTATTTATTTATTTATTT		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	31/32						chr16	TogoVar