Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CR1_chr1_207491157_207646765	207617594	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp2 HG02293.hp2 others(13): Show HG00140.hp1 HG02004.hp2 HG02293.hp2 HG03209.hp2 NA18940.hp1 NA18962.hp1 NA18966.hp2 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19064.hp1 NA19074.hp2	a0002 a0004 a0008 others(2): Show a0002 a0004 a0008 a0009 a0045	a0002c0002 a0004c0004 a0008c0011 others(3): Show a0002c0002 a0004c0004 a0008c0011 a0008c0017 a0009c0007 a0045c0044	a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 others(4): Show a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0008c0011t0014 a0008c0017t0001 a0009c0007t0001 a0045c0044t0001	a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0184 others(12): Show a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0211 a0002c0002t0001g0283 a0002c0002t0002g0008 a0004c0004t0002g0002 a0004c0004t0002g0175 a0004c0004t0002g0198 a0004c0004t0002g0219 a0008c0011t0014g0079 a0008c0017t0001g0043 a0009c0007t0001g0201 a0045c0044t0001g0103	16	360	0.0444	-30	c.689 others(47): Show c.6890-475_6890-446delTATATATATATATATATAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617596	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01515.hp2 others(20): Show HG01168.hp1 HG01515.hp1 HG01515.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02129.hp2 HG02273.hp1 HG03017.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18941.hp1 NA18951.hp2 NA18965.hp2 NA18983.hp2 NA19007.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19082.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0004c0004 a0009c0007 a0002c0002 a0004c0004 a0009c0007	a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0004c0004t0002 a0009c0007t0001 a0009c0007t0020	a0002c0002t0001g0114 a0002c0002t0001g0215 a0002c0002t0001g0305 others(20): Show a0002c0002t0001g0114 a0002c0002t0001g0215 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0213 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0127 a0004c0004t0001g0150 a0004c0004t0002g0218 a0004c0004t0002g0220 a0004c0004t0002g0284 a0009c0007t0001g0200 a0009c0007t0001g0216 a0009c0007t0001g0217 a0009c0007t0001g0291 a0009c0007t0020g0356	23	360	0.0639	-30	c.689 others(47): Show c.6890-473_6890-444delTATATATATATATATAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617598	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01070.hp2 others(13): Show HG00544.hp1 HG00597.hp2 HG01070.hp2 HG01071.hp1 HG01934.hp2 HG02083.hp1 NA18945.hp1 NA18947.hp1 NA18964.hp1 NA18972.hp2 NA18977.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp1 NA19058.hp2 NA19066.hp2	a0002 a0004 a0009 others(2): Show a0002 a0004 a0009 a0016 a0018	a0002c0002 a0004c0004 a0004c0070 others(3): Show a0002c0002 a0004c0004 a0004c0070 a0009c0007 a0016c0015 a0018c0014	a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 others(6): Show a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0018 a0004c0070t0001 a0009c0007t0001 a0016c0015t0001 a0018c0014t0002	a0002c0002t0001g0163 a0004c0004t0001g0098 a0004c0004t0001g0099 others(13): Show a0002c0002t0001g0163 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0121 a0004c0004t0001g0160 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0169 a0004c0004t0002g0199 a0004c0004t0003g0116 a0004c0004t0018g0120 a0004c0070t0001g0194 a0009c0007t0001g0214 a0016c0015t0001g0209 a0016c0015t0001g0210 a0018c0014t0002g0128	16	360	0.0444	-30	c.689 others(47): Show c.6890-471_6890-442delTATATATATATATAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617600	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02970.hp1 HG03471.hp2 others(6): Show HG00408.hp2 HG02970.hp1 HG03471.hp2 HG03831.hp1 NA18953.hp1 NA18960.hp2 NA18987.hp2 NA18988.hp1 NA19084.hp1	a0002 a0004 a0008 others(3): Show a0002 a0004 a0008 a0018 a0027 a0051	a0002c0002 a0004c0004 a0008c0011 others(4): Show a0002c0002 a0004c0004 a0008c0011 a0008c0036 a0018c0014 a0027c0056 a0051c0069	a0002c0002t0001 a0004c0004t0003 a0008c0011t0001 others(4): Show a0002c0002t0001 a0004c0004t0003 a0008c0011t0001 a0008c0036t0001 a0018c0014t0001 a0027c0056t0002 a0051c0069t0001	a0002c0002t0001g0004 a0002c0002t0001g0223 a0004c0004t0003g0119 others(6): Show a0002c0002t0001g0004 a0002c0002t0001g0223 a0004c0004t0003g0119 a0008c0011t0001g0080 a0008c0036t0001g0145 a0018c0014t0001g0117 a0018c0014t0001g0118 a0027c0056t0002g0159 a0051c0069t0001g0173	9	360	0.0250	-30	c.689 others(47): Show c.6890-469_6890-440delTATATATATATAGAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617602	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp1 NA18522.hp2 others(1): Show HG03130.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0129 a0006c0006t0001g0001 a0006c0006t0001g0089 a0002c0002t0001g0129 a0006c0006t0001g0001 a0006c0006t0001g0089	4	360	0.0111	-30	c.689 others(47): Show c.6890-467_6890-438delTATATATATAGAGAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617604	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0082 a0006c0006t0001g0082	1	360	0.0028	-30	c.689 others(47): Show c.6890-465_6890-436delTATATATAGAGAGAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617606	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0002 a0017c0024t0002	a0017c0024t0002g0058 a0017c0024t0002g0059 a0017c0024t0002g0058 a0017c0024t0002g0059	2	360	0.0056	-30	c.689 others(47): Show c.6890-463_6890-434delTATATAGAGAGAGAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617608	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19012.hp1 HG00323.hp2 NA19012.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0329 a0005c0005t0002g0330 a0005c0005t0002g0329 a0005c0005t0002g0330	2	360	0.0056	-30	c.689 others(47): Show c.6890-461_6890-432delTATAGAGAGAGAGAGAGAGAGAGAGAGA GA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACD_chr4_56044098_56335609	56218425	CCCTTCCC others(23): Show CCCTTCCCCTCCCTTTCCATCCCCTCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	250	0.0040	-30	c.-18 others(51): Show c.-189+39005_-189+39034delCCCTTTCCATCCCCTCCCTTTCCT TCCCCT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56218435	CCCTTTCC others(23): Show CCCTTTCCATCCCCTCCCTTTCCTTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02055.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG03098.hp2 HG03486.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0009 a0014 a0020	a0001c0001 a0002c0006 a0003c0002 others(4): Show a0001c0001 a0002c0006 a0003c0002 a0006c0016 a0009c0015 a0014c0012 a0020c0025	a0001c0001t0001 a0002c0006t0001 a0003c0002t0002 others(4): Show a0001c0001t0001 a0002c0006t0001 a0003c0002t0002 a0006c0016t0003 a0009c0015t0006 a0014c0012t0010 a0020c0025t0006	a0001c0001t0001g0112 a0002c0006t0001g0247 a0003c0002t0002g0053 others(4): Show a0001c0001t0001g0112 a0002c0006t0001g0247 a0003c0002t0002g0053 a0006c0016t0003g0033 a0009c0015t0006g0116 a0014c0012t0010g0016 a0020c0025t0006g0045	7	250	0.0280	-30	c.-18 others(51): Show c.-189+39013_-189+39042delATCCCCTCCCTTTCCTTCCCCTGC CTTTCC	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56295660	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02886.hp2 HG01884.hp1 HG02615.hp1 HG02886.hp2	a0003 a0007 a0003 a0007	a0003c0007 a0007c0038 a0007c0039 a0003c0007 a0007c0038 a0007c0039	a0003c0007t0001 a0007c0038t0002 a0007c0039t0003 a0003c0007t0001 a0007c0038t0002 a0007c0039t0003	a0003c0007t0001g0026 a0007c0038t0002g0099 a0007c0039t0003g0245 a0003c0007t0001g0026 a0007c0038t0002g0099 a0007c0039t0003g0245	3	250	0.0120	-30	c.-16 others(47): Show c.-16-2531_-16-2502delATATATATATATATATATATATATATAT AT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3635776	AATTACCA others(23): Show AATTACCACCATGGCCTCCCAAAGTGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	320	0.0031	-30	c.160 others(49): Show c.1603-2070_1603-2041delCCCAGCACTTTGGGAGGCCATGGTGG TAAT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	14/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3752341	CACACACA others(23): Show CACACACACACACACGGACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01069.hp2 others(68): Show HG00099.hp2 HG00438.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18992.hp1 NA18992.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19077.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0009c0012 a0012c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0007 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001 a0009c0012t0001 a0012c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 others(68): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0002c0002t0001g0044 a0002c0002t0001g0128 a0002c0002t0001g0144 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0003c0003t0001g0031 a0003c0003t0001g0129 a0003c0003t0001g0133 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0163 a0003c0003t0007g0135 a0004c0004t0002g0043 a0005c0005t0001g0148 a0005c0005t0001g0149 a0006c0006t0001g0037 a0006c0006t0001g0126 a0006c0006t0001g0156 a0009c0012t0001g0096 a0009c0012t0001g0125 a0009c0012t0001g0146 a0012c0009t0001g0045 a0012c0009t0001g0046	71	320	0.2219	-30	c.-38 others(47): Show c.-387+644_-387+673delCTGTGTGTGTGTGTCCGTGTGTGTGTGT GT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRAT_chr9_129089794_129115793	129112685	TAATCCCA others(23): Show TAATCCCAGCACTTTGGGAGGCCGAGGCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0154 a0001c0002t0004g0154	1	420	0.0024	-30	c.-22 others(41): Show c.-2206_-2177delCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	CRAT	ENSG00000095321.18	transcript	ENST00000318080.7	protein_coding		1893		chr9	TogoVar
CRB1_chr1_197263252_197483455	197354812	CCCCCGCC others(23): Show CCCCCGCCCCCCCACCCCCCCCCCCCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	186	0.0054	-30	c.989 others(47): Show c.989-2014_989-1985delGCCCCCCCACCCCCCCCCCCCGCCCACC CC	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03540.hp1 HG02258.hp1 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0002t0002g0005 a0001c0001t0001g0010 a0001c0002t0002g0005	3	390	0.0077	-30	c.-32 others(41): Show c.-3211_-3182delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		3037		chr19	TogoVar
CREB3L1_chr11_46272662_46326409	46305628	GTATATAT others(23): Show GTATATATATACATATATATGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01074.hp2 others(36): Show HG00621.hp2 HG00741.hp2 HG01074.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp2 NA18522.hp2 NA18955.hp1 NA18967.hp2 NA18973.hp1 NA18990.hp2 NA19005.hp1 NA19010.hp1 NA19068.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0010t0002	a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0005 others(33): Show a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0126 a0001c0001t0002g0151 a0001c0001t0003g0221 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0014g0039 a0001c0001t0016g0013 a0001c0001t0020g0097 a0001c0010t0002g0070	39	304	0.1283	-30	c.332 others(47): Show c.332-2186_332-2157delATATATATACATATATATGTGTGTATAT AT	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137922370	CTATATAT others(23): Show CTATATATATATATGTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03834.hp2 NA18612.hp1 others(1): Show HG02074.hp2 HG03834.hp2 NA18612.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0009 a0002c0002t0027 a0001c0001t0001 a0001c0007t0009 a0002c0002t0027	a0001c0001t0001g0069 a0001c0001t0001g0270 a0001c0007t0009g0246 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0270 a0001c0007t0009g0246 a0002c0002t0027g0267	4	288	0.0139	-30	c.319 others(47): Show c.319+5750_319+5779delTATATATATATATATACATATATATATA TA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137922408	ATATATAT others(23): Show ATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0060 a0002c0002t0013g0060	1	288	0.0035	-30	c.319 others(47): Show c.319+5712_319+5741delCGTATATATATATATATATATACATATA TA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972736	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02970.hp2 HG01175.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0001 a0001c0001t0005 a0003c0003t0001	a0001c0001t0005g0030 a0003c0003t0001g0254 a0001c0001t0005g0030 a0003c0003t0001g0254	2	288	0.0069	-30	c.102 others(49): Show c.102+28838_102+28867delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4172234	TACAGCCT others(23): Show TACAGCCTGAAACAGACCTGGACAGACAGAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0208 a0001c0001t0012g0208	1	404	0.0025	-30	c.28 others(39): Show c.283_*312delTGGACAGACAGACACAGCCTGAAACAGACC	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	10/10	283	INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28642957	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(3): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG01934.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0099 a0001c0001t0004g0098 a0001c0001t0008g0014 a0001c0001t0020g0126	6	198	0.0303	-30	c.464 others(49): Show c.464+72450_464+72479delTACACACACACACACACACACACACA CACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3880238	CCCGGGCC others(23): Show CCCGGGCCCGGCTGGCAGCGACGGCGCCCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0005 a0001c0002t0029g0005	1	286	0.0035	-30	c.-35 others(39): Show c.-352_-323delCCGGGCGCCGTCGCTGCCAGCCGGGCCCGG	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/31	323		chr16	TogoVar
CRISP2_chr6_49687359_49718543	49701618	ATATACAT others(23): Show ATATACATTATATATGTATACATTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02897.hp1 HG03540.hp1 HG02109.hp2 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181	3	410	0.0073	-30	c.67- others(43): Show c.67-864_67-835delCATATATAATGTATACATATATAATGTATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1188868	TATATGTA others(23): Show TATATGTATATGCATTTGTATATGTATTTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(39): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp2 HG01975.hp1 HG01993.hp2 HG02257.hp2 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 NA18947.hp1 NA18947.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp2 NA18980.hp2 NA18995.hp1 NA19009.hp1 NA19058.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0008 a0012 a0019 a0024	a0001c0002 a0001c0008 a0001c0011 others(12): Show a0001c0002 a0001c0008 a0001c0011 a0001c0045 a0002c0004 a0002c0005 a0002c0006 a0002c0013 a0002c0040 a0003c0016 a0005c0038 a0008c0017 a0012c0021 a0019c0034 a0024c0019	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0008t0001 a0001c0011t0001 a0001c0045t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0002 a0002c0006t0008 a0002c0013t0002 a0002c0040t0001 a0003c0016t0002 a0005c0038t0002 a0008c0017t0002 a0012c0021t0001 a0019c0034t0001 a0024c0019t0002	a0001c0002t0001g0085 a0001c0002t0002g0009 a0001c0002t0002g0014 others(39): Show a0001c0002t0001g0085 a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0048 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0116 a0001c0002t0010g0166 a0001c0008t0001g0155 a0001c0011t0001g0143 a0001c0045t0001g0149 a0002c0004t0001g0080 a0002c0004t0001g0091 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0005t0002g0111 a0002c0006t0002g0043 a0002c0006t0002g0060 a0002c0006t0002g0069 a0002c0006t0002g0093 a0002c0006t0002g0113 a0002c0006t0002g0122 a0002c0006t0002g0123 a0002c0006t0008g0028 a0002c0013t0002g0139 a0002c0013t0002g0142 a0002c0040t0001g0138 a0003c0016t0002g0137 a0003c0016t0002g0161 a0005c0038t0002g0148 a0008c0017t0002g0001 a0012c0021t0001g0053 a0019c0034t0001g0134 a0024c0019t0002g0003	42	167	0.2515	-30	c.19 others(41): Show c.1999_*2028delGCAAATACATATACAAATGCATATACATAT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		1621		chrX	TogoVar
CRLF2_chrX_1185490_1217649	1188898	CATATGTA others(23): Show CATATGTATATGTATTTGTATATGTATTTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0063 a0002c0006t0002g0063	1	167	0.0060	-30	c.19 others(41): Show c.1969_*1998delACAAATACATATACAAATACATATACATAT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		1591		chrX	TogoVar
CRLF2_chrX_1185490_1217649	1211652	GATAAGTG others(23): Show GATAAGTGGATAAAAGTGTGGGTGAATGCAT	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0141 a0001c0008t0001g0141	1	167	0.0060	-30	c.79+ others(43): Show c.79+874_79+903delATGCATTCACCCACACTTTTATCCACTTAT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CRNN_chr1_152404243_152419263	152418249	TCGCGCGC others(23): Show TCGCGCGCGCATACACACACTCGCGCGCACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02015.hp2 HG02129.hp1 others(7): Show HG01978.hp2 HG02015.hp2 HG02129.hp1 HG02615.hp1 HG03017.hp1 NA18964.hp2 NA18999.hp1 NA19068.hp2 NA19078.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0034	10	392	0.0255	-30	c.-40 others(41): Show c.-4079_-4050delCGTGCGCGCGAGTGTGTGTATGCGCGCGCG	CRNN	ENSG00000143536.7	transcript	ENST00000271835.3	protein_coding		3987		chr1	TogoVar
CRPPA_chr7_16082525_16426538	16089166	ATATATAC others(23): Show ATATATACGTACGTATATACATATATGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0230 a0002c0002t0093g0230	1	290	0.0035	-30	c.24 others(41): Show c.2499_*2528delCACACATATATGTATATACGTACGTATATA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	10/10	2499		chr7	TogoVar
CRPPA_chr7_16082525_16426538	16089200	ATACGTAC others(23): Show ATACGTACGTATATACATATATGTGTGTATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG01496.hp1 others(4): Show HG01069.hp1 HG01081.hp1 HG01496.hp1 HG02486.hp1 HG03130.hp2 HG03579.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0001c0001t0037 a0001c0001t0086 others(3): Show a0001c0001t0036 a0001c0001t0037 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0002c0002t0036	a0001c0001t0036g0059 a0001c0001t0037g0019 a0001c0001t0037g0020 others(4): Show a0001c0001t0036g0059 a0001c0001t0037g0019 a0001c0001t0037g0020 a0001c0001t0086g0018 a0001c0001t0087g0071 a0001c0001t0089g0132 a0002c0002t0036g0208	7	290	0.0241	-30	c.24 others(41): Show c.2465_*2494delCATACACACATATATGTATATACGTACGTA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	10/10	2465		chr7	TogoVar
CRPPA_chr7_16082525_16426538	16414350	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02647.hp2 others(1): Show HG02055.hp1 HG02572.hp2 HG02647.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0082 a0002c0002t0008 a0002c0002t0082	a0002c0002t0008g0251 a0002c0002t0008g0252 a0002c0002t0008g0253 others(1): Show a0002c0002t0008g0251 a0002c0002t0008g0252 a0002c0002t0008g0253 a0002c0002t0082g0250	4	290	0.0138	-30	c.257 others(47): Show c.257+6686_257+6715delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	1/9			chr7	TogoVar
CRTAC1_chr10_97860000_98035621	97894711	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00621.hp2 others(38): Show HG00280.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01074.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG02055.hp2 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18941.hp2 NA18964.hp2 NA19000.hp1 NA19005.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0005 a0002c0008 a0004c0017	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0015t0001 a0002c0005t0001 a0002c0008t0001 a0004c0017t0004	a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0059 others(38): Show a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0002t0001g0018 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0004t0001g0007 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0149 a0001c0004t0001g0154 a0001c0004t0001g0159 a0001c0004t0002g0004 a0001c0004t0002g0106 a0001c0004t0006g0126 a0001c0015t0001g0094 a0002c0005t0001g0090 a0002c0005t0001g0186 a0002c0008t0001g0112 a0002c0008t0001g0115 a0004c0017t0004g0030	41	204	0.2010	-30	c.148 others(47): Show c.1486+504_1486+533delATATATATATATATATATATATATATAT AT	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	11/14			chr10	TogoVar
CRTAP_chr3_33109014_33152773	33149492	TGGGGCAA others(23): Show TGGGGCAAGGAAGAGGGAAGTAGGGGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0188 a0001c0001t0071g0188	1	408	0.0025	-30	c.70 others(41): Show c.7045_*7074delGGGGCAAGGAAGAGGGAAGTAGGGGGGGGC	CRTAP	ENSG00000170275.15	transcript	ENST00000320954.11	protein_coding		1720		chr3	TogoVar
CRTC2_chr1_153942675_153963612	153953737	TTTCTGGT others(23): Show TTTCTGGTTCTTCTCCTGCCTATGATTGACC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	370	0.0027	-30	c.435 others(45): Show c.435-161_435-132delGGTCAATCATAGGCAGGAGAAGAACCAGAA	CRTC2	ENSG00000160741.17	transcript	ENST00000368633.2	protein_coding	4/13			chr1	TogoVar
CRY1_chr12_106986364_107098549	107069583	TAAAGTAT others(23): Show TAAAGTATATATATATAAAGTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(153): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 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 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0238 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0010g0037 a0001c0001t0010g0045 a0001c0002t0003g0199 a0001c0006t0001g0069	156	320	0.4875	-30	c.158 others(49): Show c.158+23191_158+23220delTTATATATATACTTTATATATATATA CTTT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRY1_chr12_106986364_107098549	107098202	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02723.hp2 HG02976.hp1 HG00597.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0134 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0001g0134 a0001c0001t0005g0231 a0001c0001t0005g0233	3	320	0.0094	-30	c.-52 others(41): Show c.-5271_-5242delCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding		4654		chr12	TogoVar
CRYBA4_chr22_26616963_26635669	26627390	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01169.hp2 others(17): Show HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0288	20	402	0.0498	-30	c.301 others(45): Show c.301-896_301-867delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106358191	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02647.hp2 others(1): Show HG01891.hp1 HG02055.hp2 HG02647.hp2 HG03225.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0022	a0002c0003 a0003c0038 a0007c0007 others(1): Show a0002c0003 a0003c0038 a0007c0007 a0022c0061	a0002c0003t0007 a0003c0038t0007 a0007c0007t0012 others(1): Show a0002c0003t0007 a0003c0038t0007 a0007c0007t0012 a0022c0061t0001	a0002c0003t0007g0116 a0003c0038t0007g0144 a0007c0007t0012g0158 others(1): Show a0002c0003t0007g0116 a0003c0038t0007g0144 a0007c0007t0012g0158 a0022c0061t0001g0096	4	272	0.0147	-30	c.-27 others(41): Show c.-2717_-2688delTATATATATATATATATATATATATATATG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding		2525		chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433729	ATATATAC others(23): Show ATATATACATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG02895.hp2 others(1): Show HG01070.hp1 HG01106.hp1 HG02895.hp2 HG02897.hp1	a0008 a0012 a0008 a0012	a0008c0010 a0012c0015 a0008c0010 a0012c0015	a0008c0010t0004 a0012c0015t0003 a0008c0010t0004 a0012c0015t0003	a0008c0010t0004g0028 a0008c0010t0004g0178 a0012c0015t0003g0241 others(1): Show a0008c0010t0004g0028 a0008c0010t0004g0178 a0012c0015t0003g0241 a0012c0015t0003g0242	4	272	0.0147	-30	c.174 others(49): Show c.174-17958_174-17929delCATATATATGTATATATATATGTGTA TATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97899445	GAGATGGC others(23): Show GAGATGGCTTTGTAATTTGATCAGTTCATTC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03225.hp1 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0018 a0002c0001 a0002c0018	a0002c0001t0001 a0002c0018t0001 a0002c0001t0001 a0002c0018t0001	a0002c0001t0001g0121 a0002c0018t0001g0158 a0002c0001t0001g0121 a0002c0018t0001g0158	2	316	0.0063	-30	c.797 others(47): Show c.7971+184_7971+213delGATGGCTTTGTAATTTGATCAGTTCATT CA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSF2RA_chrX_1263814_1314935	1289892	TTGTTTTG others(23): Show TTGTTTTGTGTTTTTGTGTTTTGTTTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01123.hp2 others(4): Show HG00140.hp1 HG00423.hp2 HG01123.hp2 HG01358.hp1 HG01496.hp2 HG03927.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0036 a0001c0001t0003g0093 a0001c0001t0003g0133 others(4): Show a0001c0001t0002g0036 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0004g0049 a0001c0001t0004g0072 a0001c0002t0003g0122	7	159	0.0440	-30	c.474 others(45): Show c.474-443_474-414delGTTTTGTGTTTTTGTGTTTTGTTTTTGTGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	6/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0179 a0002c0003t0007g0179	1	238	0.0042	-30	c.-39 others(51): Show c.-391-64946_-391-64917delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666789	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02572.hp2 HG00408.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0212 a0001c0002t0011g0177 a0001c0001t0001g0212 a0001c0002t0011g0177	2	238	0.0084	-30	c.-39 others(51): Show c.-391-64954_-391-64925delCTCTCTCTCTTTCTTTCTTTCTTT CTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp1 HG03041.hp1 others(1): Show HG01081.hp1 HG02735.hp1 HG03041.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0007 a0002c0003t0005 others(1): Show a0001c0002t0002 a0001c0002t0007 a0002c0003t0005 a0002c0003t0029	a0001c0002t0002g0103 a0001c0002t0007g0126 a0002c0003t0005g0076 others(1): Show a0001c0002t0002g0103 a0001c0002t0007g0126 a0002c0003t0005g0076 a0002c0003t0029g0170	4	238	0.0168	-30	c.-39 others(51): Show c.-391-64958_-391-64929delCTCTCTCTCTCTCTTTCTTTCTTT CTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3237231	GCCGAGGC others(23): Show GCCGAGGCGAGTGGATCAAAAGGTCAGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG02257.hp2 others(7): Show HG00423.hp1 HG01934.hp1 HG02257.hp2 HG03209.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA19060.hp2 NA19074.hp2 NA19090.hp2	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0003 a0001c0020 a0001c0059 others(6): Show a0001c0003 a0001c0020 a0001c0059 a0001c0080 a0001c0090 a0002c0048 a0002c0075 a0002c0092 a0025c0096	a0001c0003t0013 a0001c0003t0019 a0001c0020t0016 others(7): Show a0001c0003t0013 a0001c0003t0019 a0001c0020t0016 a0001c0059t0001 a0001c0080t0040 a0001c0090t0001 a0002c0048t0013 a0002c0075t0026 a0002c0092t0001 a0025c0096t0067	a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0020t0016g0065 others(7): Show a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0020t0016g0065 a0001c0059t0001g0036 a0001c0080t0040g0025 a0001c0090t0001g0027 a0002c0048t0013g0015 a0002c0075t0026g0051 a0002c0092t0001g0011 a0025c0096t0067g0116	10	126	0.0794	-30	c.415 others(49): Show c.4154-7030_4154-7001delACTGCTGACCTTTTGATCCACTCGCC TCGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3389613	GAATAAGT others(23): Show GAATAAGTGAGGATTATATATTAATGGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01081.hp1 others(49): Show HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0027 a0030 a0032 a0033	a0001c0001 a0001c0004 a0001c0005 others(46): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0026 a0001c0040 a0001c0059 a0001c0061 a0001c0068 a0001c0102 a0001c0111 a0001c0114 a0001c0115 a0002c0012 a0002c0015 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0051 a0002c0054 a0002c0060 a0002c0070 a0003c0014 a0005c0064 a0005c0065 a0005c0107 a0006c0116 a0009c0113 a0010c0112 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0027c0023 a0030c0052 a0032c0011 a0033c0042	a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 others(48): Show a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0006t0060 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0021t0005 a0001c0026t0006 a0001c0040t0019 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0102t0005 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 a0002c0070t0046 a0003c0014t0055 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0006c0116t0004 a0009c0113t0011 a0010c0112t0081 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0027c0023t0001 a0030c0052t0049 a0032c0011t0065 a0033c0042t0004	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(49): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0040t0019g0123 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0102t0005g0034 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0070t0046g0092 a0003c0014t0055g0056 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0116t0004g0039 a0009c0113t0011g0043 a0010c0112t0081g0090 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0027c0023t0001g0052 a0030c0052t0049g0098 a0032c0011t0065g0101 a0033c0042t0004g0004	52	126	0.4127	-30	c.259 others(49): Show c.2594-1961_2594-1932delAAAACCATTAATATATAATCCTCACT TATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412081	TATATATA others(23): Show TATATATACACACGTATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02647.hp2 others(3): Show HG01243.hp1 HG01261.hp2 HG02647.hp2 HG02723.hp2 HG03139.hp1 NA18906.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0016	a0002c0074 a0002c0084 a0005c0064 others(3): Show a0002c0074 a0002c0084 a0005c0064 a0005c0065 a0008c0067 a0016c0063	a0002c0074t0041 a0002c0084t0018 a0005c0064t0051 others(3): Show a0002c0074t0041 a0002c0084t0018 a0005c0064t0051 a0005c0065t0023 a0008c0067t0059 a0016c0063t0010	a0002c0074t0041g0031 a0002c0084t0018g0087 a0005c0064t0051g0078 others(3): Show a0002c0074t0041g0031 a0002c0084t0018g0087 a0005c0064t0051g0078 a0005c0065t0023g0050 a0008c0067t0059g0079 a0016c0063t0010g0045	6	126	0.0476	-30	c.156 others(49): Show c.1562-2506_1562-2477delGTATATATGTATATATACGTGTGTAT ATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3485762	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-30	c.144 others(49): Show c.1448+7831_1448+7860delATTTTATTTTATTTTATTTTATTTTA TTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660480	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03017.hp2 HG03710.hp1 HG02451.hp1 HG03017.hp2 HG03710.hp1	a0001 a0002 a0036 a0001 a0002 a0036	a0001c0006 a0002c0051 a0036c0100 a0001c0006 a0002c0051 a0036c0100	a0001c0006t0060 a0002c0051t0006 a0036c0100t0017 a0001c0006t0060 a0002c0051t0006 a0036c0100t0017	a0001c0006t0060g0103 a0002c0051t0006g0081 a0036c0100t0017g0121 a0001c0006t0060g0103 a0002c0051t0006g0081 a0036c0100t0017g0121	3	126	0.0238	-30	c.101 others(51): Show c.1010-43713_1010-43684delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3725668	GGTCTCAG others(23): Show GGTCTCAGATGTGGCAGGGGCAGCCACCACT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0095 a0001c0004t0063g0095	1	126	0.0079	-30	c.932 others(49): Show c.932-17207_932-17178delAGTGGTGGCTGCCCCTGCCACATCTG AGAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar

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