Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
CLSTN1_chr1_9723926_9828965	9768606	GGGGTTCT others(24): Show GGGGTTCTGTGTTGGGTGACACCATGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01981.hp2 NA18940.hp2 others(5): Show HG00558.hp1 HG01981.hp2 NA18940.hp2 NA18968.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0065 others(5): Show a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0066 a0003c0004t0002g0067 a0003c0004t0002g0068 a0003c0004t0002g0069 a0003c0004t0002g0070	8	270	0.0296	-31	c.214 others(48): Show c.214+4635_214+4665delTGCCCCCATGGTGTCACCCAACACAGAA CCC		CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	2/18						chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140204621	GAGTGGCG others(24): Show GAGTGGCGGTAAGCTCTGGAACTAAAGGTAAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG02922.hp1 others(3): Show HG01123.hp1 HG02257.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0005 others(1): Show a0001c0006 a0002c0002 a0002c0005 a0002c0017	a0001c0006t0002 a0001c0006t0004 a0002c0002t0005 others(3): Show a0001c0006t0002 a0001c0006t0004 a0002c0002t0005 a0002c0002t0011 a0002c0005t0004 a0002c0017t0005	a0001c0006t0002g0012 a0001c0006t0004g0013 a0002c0002t0005g0050 others(3): Show a0001c0006t0002g0012 a0001c0006t0004g0013 a0002c0002t0005g0050 a0002c0002t0011g0103 a0002c0005t0004g0092 a0002c0017t0005g0027	6	110	0.0546	-31	c.232 others(50): Show c.232+28553_232+28583delGCGGTAAGCTCTGGAACTAAAGGTAA CAGTG		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529413	ATATATAT others(24): Show ATATATATTATTATATATAATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01106.hp1 others(17): Show HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA18747.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0012 a0001c0001t0032 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0032 a0002c0002t0002 a0004c0005t0005 a0004c0005t0033	a0001c0001t0001g0150 a0001c0001t0001g0204 a0001c0001t0012g0163 others(16): Show a0001c0001t0001g0150 a0001c0001t0001g0204 a0001c0001t0012g0163 a0001c0001t0012g0164 a0001c0001t0012g0165 a0001c0001t0012g0329 a0001c0001t0032g0328 a0002c0002t0002g0284 a0002c0002t0002g0301 a0004c0005t0005g0013 a0004c0005t0005g0083 a0004c0005t0005g0091 a0004c0005t0005g0092 a0004c0005t0005g0093 a0004c0005t0005g0094 a0004c0005t0005g0095 a0004c0005t0005g0096 a0004c0005t0005g0162 a0004c0005t0033g0090	20	382	0.0524	-31	c.929 others(48): Show c.929-1113_929-1083delTATATATAATATATATTATATTATATAT TAT		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	626978	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA20905.hp2 HG01106.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0324 a0001c0001t0002g0100 a0001c0001t0002g0324	2	414	0.0048	-31	c.424 others(45): Show c.424-118_424-88delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CLUL1_chr18_591988_655182	645805	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 HG03486.hp1 HG02886.hp2 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0280 a0001c0001t0002g0126 a0001c0001t0001g0049 a0001c0001t0001g0280 a0001c0001t0002g0126	3	414	0.0073	-31	c.139 others(48): Show c.1397+710_1397+740delAAAAATATATATATATATATATATATAT ATA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CMIP_chr16_81439808_81716762	81647977	CCCCCCAC others(24): Show CCCCCCACACCCGCAGAGCCGTAGCCCACCCT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0117 a0001c0001t0009g0117	1	268	0.0037	-31	c.478 others(48): Show c.478-4220_478-4190delACACCCGCAGAGCCGTAGCCCACCCTCC CCC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172823	CGGGAGAG others(24): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	322	0.0031	-31	c.33 others(42): Show c.3326_*3356delTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2492		chr2	TogoVar
CMTM8_chr3_32233680_32375321	32328454	GGCTCAAG others(24): Show GGCTCAAGGCTGCAGTGAGCTCTGATCGTGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp2 others(89): Show HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18978.hp2 NA18979.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19075.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(89): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0168 a0001c0001t0003g0321 a0001c0006t0001g0311 a0002c0003t0002g0198	92	344	0.2674	-31	c.148 others(50): Show c.148-28915_148-28885delCAAGGCTGCAGTGAGCTCTGATCGTG CCGCT		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742080	CTTCTTCT others(24): Show CTTCTTCTTCTTCTTCTTCTTTCTTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(95): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0005 others(21): Show a0003 a0004 a0005 a0006 a0009 a0024 a0025 a0030 a0035 a0036 a0037 a0038 a0040 a0041 a0045 a0048 a0051 a0076 a0077 a0078 a0079 a0080 a0081 a0084	a0003c0003 a0003c0034 a0003c0069 others(30): Show a0003c0003 a0003c0034 a0003c0069 a0004c0006 a0005c0005 a0005c0077 a0005c0079 a0005c0085 a0005c0089 a0006c0004 a0009c0009 a0024c0082 a0024c0084 a0024c0087 a0025c0023 a0030c0096 a0035c0037 a0036c0068 a0036c0070 a0037c0036 a0038c0035 a0040c0040 a0041c0041 a0045c0099 a0048c0107 a0051c0100 a0076c0088 a0077c0083 a0078c0080 a0079c0081 a0080c0090 a0081c0091 a0084c0050	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(46): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0013 a0003c0034t0009 a0003c0034t0012 a0003c0069t0002 a0004c0006t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0077t0001 a0005c0079t0003 a0005c0085t0001 a0005c0089t0001 a0006c0004t0001 a0006c0004t0002 a0006c0004t0006 a0009c0009t0001 a0009c0009t0002 a0009c0009t0014 a0024c0082t0001 a0024c0084t0001 a0024c0087t0001 a0025c0023t0001 a0025c0023t0002 a0030c0096t0001 a0035c0037t0001 a0035c0037t0011 a0036c0068t0001 a0036c0070t0003 a0037c0036t0001 a0038c0035t0001 a0040c0040t0003 a0040c0040t0007 a0041c0041t0005 a0045c0099t0002 a0048c0107t0004 a0051c0100t0002 a0076c0088t0002 a0077c0083t0002 a0078c0080t0002 a0079c0081t0002 a0080c0090t0002 a0081c0091t0005 a0084c0050t0001	a0003c0003t0001g0015 a0003c0003t0001g0046 a0003c0003t0001g0099 others(94): Show a0003c0003t0001g0015 a0003c0003t0001g0046 a0003c0003t0001g0099 a0003c0003t0001g0153 a0003c0003t0001g0178 a0003c0003t0001g0188 a0003c0003t0001g0192 a0003c0003t0001g0232 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0002g0050 a0003c0003t0002g0058 a0003c0003t0002g0070 a0003c0003t0002g0149 a0003c0003t0002g0167 a0003c0003t0002g0213 a0003c0003t0002g0290 a0003c0003t0003g0081 a0003c0003t0003g0105 a0003c0003t0003g0352 a0003c0003t0005g0020 a0003c0003t0005g0035 a0003c0003t0008g0018 a0003c0003t0009g0313 a0003c0003t0013g0090 a0003c0034t0009g0320 a0003c0034t0012g0021 a0003c0069t0002g0310 a0004c0006t0003g0062 a0005c0005t0001g0039 a0005c0005t0001g0045 a0005c0005t0001g0216 a0005c0005t0001g0217 a0005c0005t0001g0218 a0005c0005t0001g0220 a0005c0005t0001g0270 a0005c0005t0001g0337 a0005c0005t0001g0353 a0005c0005t0002g0004 a0005c0005t0002g0170 a0005c0005t0002g0214 a0005c0005t0004g0017 a0005c0077t0001g0221 a0005c0079t0003g0082 a0005c0085t0001g0223 a0005c0089t0001g0348 a0006c0004t0001g0059 a0006c0004t0001g0079 a0006c0004t0001g0122 a0006c0004t0001g0152 a0006c0004t0001g0161 a0006c0004t0001g0162 a0006c0004t0001g0193 a0006c0004t0001g0201 a0006c0004t0001g0225 a0006c0004t0001g0247 a0006c0004t0002g0100 a0006c0004t0002g0123 a0006c0004t0002g0199 a0006c0004t0006g0156 a0009c0009t0001g0014 a0009c0009t0001g0264 a0009c0009t0001g0322 a0009c0009t0001g0323 a0009c0009t0001g0346 a0009c0009t0001g0357 a0009c0009t0002g0265 a0009c0009t0002g0268 a0009c0009t0014g0266 a0024c0082t0001g0297 a0024c0084t0001g0172 a0024c0087t0001g0010 a0025c0023t0001g0106 a0025c0023t0001g0234 a0025c0023t0002g0203 a0030c0096t0001g0274 a0035c0037t0001g0177 a0035c0037t0011g0319 a0036c0068t0001g0133 a0036c0070t0003g0060 a0037c0036t0001g0103 a0037c0036t0001g0326 a0038c0035t0001g0092 a0038c0035t0001g0093 a0040c0040t0003g0325 a0040c0040t0007g0031 a0041c0041t0005g0001 a0045c0099t0002g0316 a0048c0107t0004g0317 a0051c0100t0002g0356 a0076c0088t0002g0215 a0077c0083t0002g0224 a0078c0080t0002g0118 a0079c0081t0002g0091 a0080c0090t0002g0094 a0081c0091t0005g0038 a0084c0050t0001g0107	98	358	0.2737	-31	c.106 others(52): Show c.10639-1745_10639-1715delTCTTCTTCTTCTTCTTCTTTCTTC TTCTCTT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87170492	GTTCCCAA others(24): Show GTTCCCAATCTTGGAGGAAAGGCTTGCAGTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01099.hp2 others(2): Show HG00099.hp2 HG00741.hp2 HG01099.hp2 HG01192.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0110	5	152	0.0329	-31	c.432 others(50): Show c.432-35464_432-35434delAATCTTGGAGGAAAGGCTTGCAGTTT TTCCC		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57954731	TTGGTGTC others(24): Show TTGGTGTCCCCAAGCCTTGGAAGGAGAGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG01261.hp1 HG01496.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0015 a0002c0005t0001g0016	2	360	0.0056	-31	c.874 others(48): Show c.874+2579_874+2609delCACTCTCTCCTTCCAAGGCTTGGGGACA CCA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	12/32						chr16	TogoVar
CNOT4_chr7_135356795_135515102	135472505	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG01175.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0238 a0001c0001t0002g0135 a0001c0001t0001g0238 a0001c0001t0002g0135	2	362	0.0055	-31	c.-92 others(50): Show c.-92-34113_-92-34083delATATATATATATATATATATATTTTT TTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472507	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG02735.hp2 others(4): Show HG00639.hp2 HG00738.hp2 HG02735.hp2 HG04115.hp1 NA18948.hp2 NA18951.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0271	7	362	0.0193	-31	c.-92 others(50): Show c.-92-34115_-92-34085delATATATATATATATATATATATATTT TTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472509	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02572.hp2 HG03486.hp2 others(4): Show HG00438.hp2 HG02572.hp2 HG03486.hp2 NA18991.hp2 NA19010.hp1 NA19011.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0002g0139 a0001c0001t0002g0140	7	362	0.0193	-31	c.-92 others(50): Show c.-92-34117_-92-34087delATATATATATATATATATATATATAT TTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495683	AAAAAAAA others(24): Show AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	362	0.0028	-31	c.-93 others(50): Show c.-93+14175_-93+14205delCTTTCTTTCTTTCTTTCTTTCTTTTT TTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495687	AAAAAAAG others(24): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	362	0.0028	-31	c.-93 others(50): Show c.-93+14171_-93+14201delCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495691	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	362	0.0055	-31	c.-93 others(50): Show c.-93+14167_-93+14197delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02615.hp1 others(6): Show HG01167.hp1 HG02451.hp2 HG02615.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0001t0041 a0001c0001t0060 others(2): Show a0001c0001t0040 a0001c0001t0041 a0001c0001t0060 a0001c0002t0004 a0001c0002t0005	a0001c0001t0040g0100 a0001c0001t0041g0101 a0001c0001t0060g0002 others(6): Show a0001c0001t0040g0100 a0001c0001t0041g0101 a0001c0001t0060g0002 a0001c0002t0004g0036 a0001c0002t0004g0041 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0005g0047	9	334	0.0270	-31	c.112 others(50): Show c.112+10189_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN5_chr11_99015949_100363885	99463555	GTCTATAC others(24): Show GTCTATACTGTATAATGTCTGCTATTCCAAGC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 HG02886.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0001c0001t0004 a0003c0003t0002	a0001c0001t0004g0029 a0003c0003t0002g0027 a0001c0001t0004g0029 a0003c0003t0002g0027	2	66	0.0303	-31	c.-70 others(50): Show c.-70-92588_-70-92558delCTATACTGTATAATGTCTGCTATTCC AAGCT		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1244855	TTACAAAG others(24): Show TTACAAAGAACCTTCTTAAGGGTGGGGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(19): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01361.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02622.hp2 HG02698.hp1 HG03195.hp1 HG03834.hp2 HG04204.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0046 a0001c0001t0001g0105 a0001c0001t0001g0141 others(19): Show a0001c0001t0001g0046 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0125 a0001c0002t0002g0021 a0001c0002t0005g0050 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0064 a0001c0003t0001g0074 a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0003t0001g0177 a0001c0003t0001g0225 a0001c0004t0001g0066 a0001c0004t0001g0123 a0001c0006t0002g0178 a0001c0007t0001g0155	22	232	0.0948	-31	c.358 others(50): Show c.358+16870_358+16900delAACCTTCTTAAGGGTGGGGGAGACTA CAAAG		CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1244886	CTACAAAG others(24): Show CTACAAAGTACCTTCTTAAGGGTGGGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0196 a0001c0005t0001g0196	1	232	0.0043	-31	c.358 others(50): Show c.358+16904_358+16934delCTTCTTAAGGGTGGGGGAGATTACAA AGTAC		CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245264	TATATATA others(24): Show TATATATATATACACACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18951.hp2 NA19030.hp1 HG02523.hp2 NA18951.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0130 a0001c0003t0001g0226 a0001c0009t0001g0150 a0001c0001t0001g0130 a0001c0003t0001g0226 a0001c0009t0001g0150	3	232	0.0129	-31	c.358 others(50): Show c.358+17283_358+17313delCACACACATATATATATAACATATAT ATATA		CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146525557	TATCTATC others(24): Show TATCTATCTATCTATCTATCTCTCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	40	0.0250	-31	c.98- others(50): Show c.98-248702_98-248672delTATCTATCTCTCTATCTATCATCTAT CTATC		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147084313	CATATATG others(24): Show CATATATGCATAATGCTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03139.hp1 HG03540.hp1 others(1): Show HG02897.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0007 a0001c0002t0001 a0001c0002t0010 others(1): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0010 a0001c0008t0001	a0001c0001t0007g0018 a0001c0002t0001g0008 a0001c0002t0010g0002 others(1): Show a0001c0001t0007g0018 a0001c0002t0001g0008 a0001c0002t0010g0002 a0001c0008t0001g0025	4	40	0.1000	-31	c.551 others(50): Show c.551-23768_551-23738delTATGCATAATGCTATATATGTATATA TAATA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(24): Show TCAAAATCAAGATTTTGTATCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp1 HG02559.hp2 others(5): Show HG01934.hp2 HG02056.hp1 HG02559.hp2 HG02572.hp2 HG02886.hp2 HG03486.hp1 NA18998.hp2 NA19030.hp2	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0007 a0008 a0021 a0024	a0002c0002 a0003c0011 a0005c0005 others(4): Show a0002c0002 a0003c0011 a0005c0005 a0007c0009 a0008c0006 a0021c0032 a0024c0029	a0002c0002t0001 a0003c0011t0004 a0005c0005t0006 others(4): Show a0002c0002t0001 a0003c0011t0004 a0005c0005t0006 a0007c0009t0025 a0008c0006t0010 a0021c0032t0004 a0024c0029t0006	a0002c0002t0001g0063 a0003c0011t0004g0078 a0005c0005t0006g0073 others(5): Show a0002c0002t0001g0063 a0003c0011t0004g0078 a0005c0005t0006g0073 a0007c0009t0025g0037 a0008c0006t0010g0069 a0008c0006t0010g0070 a0021c0032t0004g0079 a0024c0029t0006g0087	8	108	0.0741	-31	c.85+ others(48): Show c.85+10149_85+10179delTATCAAATCAAGATACAAAATCTTGATT TTG		CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23						chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76420196	TATGTATA others(24): Show TATGTATATTCTGTAGAATATATATTAGAATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp1 HG02015.hp2 others(7): Show HG00673.hp1 HG01433.hp1 HG02015.hp2 HG02155.hp1 NA18955.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19070.hp1 NA19085.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0015 a0003c0028 a0004c0007 others(2): Show a0001c0015 a0003c0028 a0004c0007 a0005c0008 a0008c0017	a0001c0015t0006 a0003c0028t0005 a0004c0007t0004 others(3): Show a0001c0015t0006 a0003c0028t0005 a0004c0007t0004 a0005c0008t0001 a0005c0008t0003 a0008c0017t0002	a0001c0015t0006g0166 a0003c0028t0005g0274 a0004c0007t0004g0055 others(7): Show a0001c0015t0006g0166 a0003c0028t0005g0274 a0004c0007t0004g0055 a0005c0008t0001g0060 a0005c0008t0001g0061 a0005c0008t0001g0108 a0005c0008t0001g0220 a0005c0008t0001g0221 a0005c0008t0003g0152 a0008c0017t0002g0214	10	274	0.0365	-31	c.391 others(48): Show c.391-7213_391-7183delGTAGAATATATATTAGAATAATGTATAT TCT		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76481542	CAGTCTCC others(24): Show CAGTCTCCCTGGCTGCATTTTAACTGCTTAAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp2 HG02155.hp1 others(4): Show HG00673.hp1 HG02015.hp2 HG02155.hp1 NA18955.hp1 NA19062.hp1 NA19070.hp1 NA19085.hp2	a0005 a0008 a0005 a0008	a0005c0008 a0008c0017 a0005c0008 a0008c0017	a0005c0008t0001 a0005c0008t0003 a0008c0017t0002 a0005c0008t0001 a0005c0008t0003 a0008c0017t0002	a0005c0008t0001g0060 a0005c0008t0001g0061 a0005c0008t0001g0108 others(4): Show a0005c0008t0001g0060 a0005c0008t0001g0061 a0005c0008t0001g0108 a0005c0008t0001g0220 a0005c0008t0001g0221 a0005c0008t0003g0152 a0008c0017t0002g0214	7	274	0.0256	-31	c.188 others(50): Show c.1882+2007_1882+2037delTCTCCCTGGCTGCATTTTAACTGCTT AATAG		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
COA1_chr7_43634257_43734523	43691270	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	384	0.0026	-31	c.-39 others(50): Show c.-39+38128_-39+38158delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5						chr7	TogoVar
COL18A1_chr21_45400165_45518720	45431457	GGGGGGCA others(24): Show GGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	292	0.0034	-31	c.106 others(50): Show c.106+26021_106+26051delCAGGCAGGACCCGGCGGCCCAGGGGA GGGGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484399	ACACACAC others(24): Show ACACACACACACACCTCTCCAGCATATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18969.hp2 HG02109.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0069 a0001c0003 a0001c0069	a0001c0003t0003 a0001c0069t0005 a0001c0003t0003 a0001c0069t0005	a0001c0003t0003g0264 a0001c0069t0005g0038 a0001c0003t0003g0264 a0001c0069t0005g0038	2	292	0.0069	-31	c.170 others(50): Show c.1701+1590_1701+1620delACCTCTCCAGCATATGTGAGCACACA CACAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	70053736	TCTTTTTT others(24): Show TCTTTTTTGTCAATATAAAAATTGCCAGCATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp2 HG03486.hp1 HG02451.hp2 HG03471.hp2 HG03486.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0017 a0004c0018 a0002c0004 a0004c0017 a0004c0018	a0002c0004t0001 a0004c0017t0026 a0004c0018t0025 a0002c0004t0001 a0004c0017t0026 a0004c0018t0025	a0002c0004t0001g0013 a0004c0017t0026g0130 a0004c0018t0025g0114 a0002c0004t0001g0013 a0004c0017t0026g0130 a0004c0018t0025g0114	3	182	0.0165	-31	c.117 others(52): Show c.1171-14686_1171-14656delCTTTTTTGTCAATATAAAAATTGC CAGCATA		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	14/50						chr6	TogoVar
COL23A1_chr5_178232618_178595393	178581006	TCAAAAAG others(24): Show TCAAAAAGAAATAAAGTTTCCACACCAAACTG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	236	0.0042	-31	c.294 others(48): Show c.294+8867_294+8897delCAGTTTGGTGTGGAAACTTTATTTCTTT TTG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28						chr5	TogoVar
COL24A1_chr1_85724233_86161772	85939919	GTATAAAT others(24): Show GTATAAATAAATAAAAATAATGACTACTCACC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG01099.hp2 HG02055.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0002g0209 a0004c0002t0002g0214	2	238	0.0084	-31	c.256 others(52): Show c.2562+21299_2562+21329delGGTGAGTAGTCATTATTTTTATTT ATTTATA		COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	24/59						chr1	TogoVar
COL2A1_chr12_47967967_48009476	47971711	TATAATAT others(24): Show TATAATATATGTATATATTATTATATTGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02723.hp2 others(5): Show HG01884.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03139.hp2 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0043 others(1): Show a0001c0002 a0001c0004 a0001c0043 a0003c0031	a0001c0002t0001 a0001c0004t0001 a0001c0043t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0043t0001 a0003c0031t0002	a0001c0002t0001g0151 a0001c0004t0001g0011 a0001c0004t0001g0051 others(4): Show a0001c0002t0001g0151 a0001c0004t0001g0011 a0001c0004t0001g0051 a0001c0004t0001g0226 a0001c0004t0001g0230 a0001c0043t0001g0183 a0003c0031t0002g0067	8	414	0.0193	-31	c.16 others(42): Show c.1665_*1695delTATACAATATAATAATATATACATATATTAT		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding					1255		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110253271	ATATAATT others(24): Show ATATAATTATATGTATTACATATACATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0103 a0003c0103	a0003c0103t0001 a0003c0103t0001	a0003c0103t0001g0240 a0003c0103t0001g0240	1	344	0.0029	-31	c.85- others(48): Show c.85-10568_85-10538delATTATATGTATATGTAATACATATAATT ATA		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481742	GTTGCTGG others(24): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCAT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0275 a0001c0002t0004g0275	1	372	0.0027	-31	c.275 others(48): Show c.2759-772_2759-742delTGCTGGAGACACACAGTTCTGTCCCTCC ATT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227311808	AAAGCTGG others(24): Show AAAGCTGGGGAATTAGAAAAAATAATAAGTCG	A A	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0022 a0022	a0022c0052 a0022c0052	a0022c0052t0001 a0022c0052t0001	a0022c0052t0001g0325 a0022c0052t0001g0325	1	344	0.0029	-31	c.495 others(40): Show c.4952_4982delAAGCTGGGGAATTAGAAAAAATAATAAGTCG	p.Lys others(6): Show p.Lys1651fs	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	52/52	5055/8038	4952/5013	1651/1670			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526648	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG01109.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0249 a0001c0001t0001g0121 a0001c0001t0001g0249	2	269	0.0074	-31	c.82- others(48): Show c.82-13096_82-13066delTTCTTTCTTTCTTCTTTCTTTCTCTTTC TTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(24): Show CTTTCTTCTTTCTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0219 a0002c0002t0001g0066 a0001c0003t0001g0219 a0002c0002t0001g0066	2	269	0.0074	-31	c.82- others(48): Show c.82-13088_82-13058delTTCTTCTTTCTTTCTCTTTCTTTCTTTC TTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134654653	GGCTGGTG others(24): Show GGCTGGTGTGTGTAGGGCTGTAGGTGTGTAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0039 a0001c0012t0039	a0001c0012t0039g0230 a0001c0012t0039g0230	1	272	0.0037	-31	c.109 others(50): Show c.109+12388_109+12418delAGCTGGTGTGTGTAGGGCTGTAGGTG TGTAG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712150	TCCTCCTT others(24): Show TCCTCCTTCCTGCCCATCTTCTTCCTTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02897.hp2 others(5): Show HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03471.hp1 NA18906.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0064 a0002c0042 a0001c0003 a0001c0064 a0002c0042	a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 others(4): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0014 a0001c0003t0025 a0001c0064t0019 a0002c0042t0002	a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0010g0259 others(5): Show a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0064t0019g0010 a0002c0042t0002g0234	8	272	0.0294	-31	c.654 others(50): Show c.654+10832_654+10862delATCTTCTTCCTTTCCCCCCTCCTTCC TGCCC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826678	TGGTGGAT others(24): Show TGGTGGATGGGTGCGTGTGGCTGGTATGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show HG02145.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0025	a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 others(1): Show a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 a0001c0025t0015	a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 others(1): Show a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 a0001c0025t0015g0007	4	272	0.0147	-31	c.506 others(48): Show c.5067+779_5067+809delGATGGGTGCGTGTGGCTGGTATGTGGGG GTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(29): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG01081.hp2 HG01167.hp1 HG01243.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02809.hp2 HG03017.hp2 HG03195.hp2 HG03486.hp1 HG03492.hp2 HG03704.hp1 NA18941.hp2 NA18955.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19240.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0007 a0018 a0019 a0021 a0026 a0038 a0039 a0041 a0058 a0063 a0068	a0001c0014 a0002c0009 a0004c0003 others(17): Show a0001c0014 a0002c0009 a0004c0003 a0004c0006 a0004c0016 a0004c0072 a0004c0113 a0004c0120 a0007c0011 a0007c0030 a0018c0020 a0019c0044 a0021c0029 a0026c0035 a0038c0052 a0039c0128 a0041c0136 a0058c0098 a0063c0057 a0068c0049	a0001c0014t0001 a0002c0009t0001 a0004c0003t0002 others(19): Show a0001c0014t0001 a0002c0009t0001 a0004c0003t0002 a0004c0003t0003 a0004c0006t0002 a0004c0006t0003 a0004c0016t0003 a0004c0072t0001 a0004c0113t0002 a0004c0120t0002 a0007c0011t0001 a0007c0030t0001 a0018c0020t0003 a0019c0044t0004 a0021c0029t0005 a0026c0035t0002 a0038c0052t0003 a0039c0128t0004 a0041c0136t0001 a0058c0098t0001 a0063c0057t0002 a0068c0049t0002	a0001c0014t0001g0147 a0002c0009t0001g0079 a0004c0003t0002g0002 others(28): Show a0001c0014t0001g0147 a0002c0009t0001g0079 a0004c0003t0002g0002 a0004c0003t0002g0208 a0004c0003t0002g0256 a0004c0003t0003g0068 a0004c0003t0003g0075 a0004c0003t0003g0091 a0004c0003t0003g0207 a0004c0003t0003g0225 a0004c0006t0002g0038 a0004c0006t0002g0299 a0004c0006t0003g0013 a0004c0006t0003g0090 a0004c0016t0003g0135 a0004c0072t0001g0185 a0004c0113t0002g0226 a0004c0120t0002g0024 a0007c0011t0001g0291 a0007c0011t0001g0292 a0007c0030t0001g0245 a0018c0020t0003g0058 a0019c0044t0004g0221 a0021c0029t0005g0168 a0026c0035t0002g0164 a0038c0052t0003g0082 a0039c0128t0004g0010 a0041c0136t0001g0165 a0058c0098t0001g0101 a0063c0057t0002g0056 a0068c0049t0002g0279	32	322	0.0994	-31	c.766 others(48): Show c.7668+805_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43						chr2	TogoVar
COL6A6_chr3_130512177_130682042	130590277	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0001 a0021c0030t0001	a0021c0030t0001g0156 a0021c0030t0001g0156	1	264	0.0038	-31	c.421 others(48): Show c.4219-762_4219-732delATATATATATATATATATATATTTTTTT TTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590279	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0004 a0004c0029t0004	a0004c0029t0004g0236 a0004c0029t0004g0236	1	264	0.0038	-31	c.421 others(48): Show c.4219-760_4219-730delATATATATATATATATATATTTTTTTTT TTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A3_chr20_62812050_62846159	62823967	CGGAGTGG others(24): Show CGGAGTGGCCTCCTGGGGTCCCGTCACTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA21309.hp1 HG01167.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0077 a0001c0010t0002g0134 a0001c0001t0001g0077 a0001c0010t0002g0134	2	412	0.0049	-31	c.520 others(46): Show c.520-426_520-396delCGTCACTGTGTGGAGTGGCCTCCTGGGGTC C		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62824299	TGGGGTCC others(24): Show TGGGGTCCTGTCACCATGAGGAGTGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0003 a0017c0043t0003	a0017c0043t0003g0357 a0017c0043t0003g0357	1	412	0.0024	-31	c.520 others(46): Show c.520-138_520-108delTGTCACCATGAGGAGTGGCCTCCCGGGGTC C		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3605279	AGGGGAGT others(24): Show AGGGGAGTCACGTGGGTGCCGAGGAGGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG01243.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0319 a0001c0001t0001g0232 a0001c0001t0001g0319	2	378	0.0053	-31	c.130 others(46): Show c.130+901_130+931delCGGGGGAGTCACGTGGGTGCCGAGGAGGGG G		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
COP1_chr1_175939831_176212286	176133069	TACGTATA others(24): Show TACGTATATATACTATATATACACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	300	0.0033	-31	c.968 others(48): Show c.968+1910_968+1940delGTATATGTGTGTATATATAGTATATATA CGT		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19						chr1	TogoVar
COP1_chr1_175939831_176212286	176209307	CCCCCCCA others(24): Show CCCCCCCACCCCCTTTTGTTTAAGAGATGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1 HG03486.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0257 a0001c0001t0003g0286 a0001c0001t0001g0034 a0001c0001t0001g0257 a0001c0001t0003g0286	3	300	0.0100	-31	c.-23 others(42): Show c.-2360_-2330delCCCCATCTCTTAAACAAAAGGGGGTGGGGGG		COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding					2022		chr1	TogoVar

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