Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CHD5_chr1_6096787_6185321	6160378	AAGAGCCC others(47): Show AAGAGCCCTAGCCAGGGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGA GAAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0039 a0001c0009t0039	a0001c0009t0039g0013 a0001c0009t0039g0013	1	320	0.0031	-54	c.208 others(69): Show c.208-917_208-864delCCTTCTCTGGCTGGGGCCCTTCTCTGGCTG GGGCCCTTCCCTGGCTAGGGCTCT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHRNA2_chr8_27454756_27484261	27480853	ATCTGATT others(47): Show ATCTGATTAAAGCATGTGCTCCCAAACCAGATGCCAGGAAGGCCAAGGAA GCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0097 a0003c0003t0002g0097	1	458	0.0022	-54	c.-22 others(65): Show c.-2220_-2167delCCTGCTTCCTTGGCCTTCCTGGCATCTGGTTTGG GAGCACATGCTTTAATCAGA	CHRNA2	ENSG00000120903.13	transcript	ENST00000407991.3	protein_coding		1593		chr8	TogoVar
CHRNB4_chr15_78619111_78646210	78632199	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02486.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03239.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0014 a0001c0018 others(6): Show a0001c0001 a0001c0014 a0001c0018 a0003c0004 a0006c0009 a0007c0015 a0008c0011 a0009c0017 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0014t0001 a0001c0018t0001 a0003c0004t0004 a0006c0009t0001 a0007c0015t0001 a0008c0011t0003 a0009c0017t0002 a0010c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0002g0036 a0001c0001t0002g0103 a0001c0001t0002g0153 a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0159 a0001c0001t0003g0179 a0001c0001t0003g0214 a0001c0001t0003g0222 a0001c0001t0017g0091 a0001c0014t0001g0100 a0001c0018t0001g0083 a0003c0004t0004g0012 a0006c0009t0001g0186 a0007c0015t0001g0101 a0008c0011t0003g0143 a0009c0017t0002g0092 a0010c0012t0001g0135	127	416	0.3053	-54	c.205 others(69): Show c.205-921_205-868delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAAAGAAAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CKB_chr14_103514667_103527830	103526949	TTTCTTCA others(47): Show TTTCTTCAAATCAGCCATTGGTTCTCTGAAGCCGGTTTACTGGCTTTAAT TCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-54	c.-42 others(65): Show c.-4250_-4197delTAAGAATTAAAGCCAGTAAACCGGCTTCAGAGAA CCAATGGCTGATTTGAAGAA	CKB	ENSG00000166165.14	transcript	ENST00000348956.7	protein_coding		4120		chr14	TogoVar
CLIP1_chr12_122266469_122427669	122361220	AATCACAA others(47): Show AATCACAAGAAATAATAACTATAACCAAAAGGTTCTCCCAACTCCTAACT TACGG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0096 a0006c0015t0001g0096	1	234	0.0043	-54	c.783 others(67): Show c.783-93_783-40delCCGTAAGTTAGGAGTTGGGAGAACCTTTTGGT TATAGTTATTATTTCTTGTGAT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	4/25			chr12	TogoVar
CLMP_chr11_123064872_123200248	123118959	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03239.hp2 HG01243.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0197 a0001c0001t0028g0238 a0001c0001t0002g0197 a0001c0001t0028g0238	2	254	0.0079	-54	c.29- others(71): Show c.29-21061_29-21008delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118963	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	254	0.0039	-54	c.29- others(71): Show c.29-21065_29-21012delGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123128358	CCAGGCCT others(47): Show CCAGGCCTGTAATGCCAGCATGGTAGCTCAGGCCTGTAATCCTGGCATGG TGGCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG00741.hp2 others(37): Show HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03704.hp2 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18986.hp1 NA19002.hp2 NA19077.hp2 NA19084.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0048 a0001c0004t0005 a0002c0002t0025	a0001c0001t0001g0039 a0001c0001t0002g0189 a0001c0001t0002g0202 others(37): Show a0001c0001t0001g0039 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0002g0247 a0001c0001t0003g0113 a0001c0001t0005g0038 a0001c0001t0005g0064 a0001c0001t0005g0069 a0001c0001t0005g0087 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0012g0131 a0001c0001t0012g0140 a0001c0001t0012g0142 a0001c0001t0012g0169 a0001c0001t0013g0127 a0001c0001t0013g0181 a0001c0001t0014g0115 a0001c0001t0014g0125 a0001c0001t0016g0018 a0001c0001t0016g0051 a0001c0001t0016g0086 a0001c0001t0017g0119 a0001c0001t0017g0120 a0001c0001t0017g0166 a0001c0001t0019g0186 a0001c0001t0019g0209 a0001c0001t0019g0213 a0001c0001t0021g0222 a0001c0001t0028g0221 a0001c0001t0028g0238 a0001c0001t0029g0194 a0001c0001t0029g0200 a0001c0001t0033g0020 a0001c0001t0034g0080 a0001c0001t0036g0114 a0001c0001t0039g0161 a0001c0001t0048g0233 a0001c0004t0005g0079 a0002c0002t0025g0106	40	254	0.1575	-54	c.29- others(71): Show c.29-30460_29-30407delAGCCACCATGCCAGGATTACAGGCCTGA GCTACCATGCTGGCATTACAGGCCTG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLUL1_chr18_591988_655182	596894	TCACCTGC others(47): Show TCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGC GTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	414	0.0024	-54	c.-37 others(63): Show c.-370_-317delCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCC CCGCCCACCCGGCGTCAC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		93		chr18	TogoVar
CMIP_chr16_81439808_81716762	81669659	CACCCACC others(47): Show CACCCACCTCACACTCACCTCCTTCCACACCCACCTCACATTCACCTCCT CCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(73): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02056.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19081.hp2 NA19082.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0024 others(73): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0247 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0143 a0001c0001t0004g0011 a0001c0001t0004g0159 a0001c0001t0005g0043 a0001c0001t0005g0052 a0001c0001t0006g0044 a0001c0001t0006g0104 a0001c0001t0006g0182 a0001c0001t0007g0229 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0081 a0001c0001t0008g0092 a0001c0001t0009g0069 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0117 a0001c0001t0009g0235 a0001c0001t0010g0006 a0001c0001t0010g0257 a0001c0001t0011g0153 a0001c0001t0012g0055 a0001c0001t0014g0128 a0001c0001t0015g0218 a0001c0001t0015g0230 a0001c0001t0016g0236 a0001c0001t0017g0030 a0001c0001t0018g0017 a0001c0001t0019g0068 a0001c0001t0023g0264 a0001c0001t0025g0191 a0001c0001t0027g0101 a0001c0001t0031g0158 a0001c0001t0034g0116 a0001c0001t0040g0243 a0001c0001t0045g0206 a0001c0001t0048g0074 a0001c0002t0001g0192 a0001c0002t0004g0162	76	268	0.2836	-54	c.826 others(69): Show c.826-446_826-393delACATTCACCTCCTCCCATACCCACCTCACA CTCACCTCCTTCCACACCCACCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNDP2_chr18_74491363_74528454	74503748	ACAGCCAC others(47): Show ACAGCCACAGTGACGCTGGGACAAATGAGGGGCGTCAGGCCATACACTGC ACACG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02622.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0009g0168 others(2): Show a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0009g0168 a0001c0001t0009g0170 a0001c0001t0009g0171	5	424	0.0118	-54	c.205 others(71): Show c.205-2089_205-2036delACGCTGGGACAAATGAGGGGCGTCAGGC CATACACTGCACACGCAGCCACAGTG	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74503811	GTGCCGCT others(47): Show GTGCCGCTGGGACAAATGAGGGGCGTCAGGCCACACGCCACACACGCAGC CACAC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	424	0.0024	-54	c.205 others(71): Show c.205-1951_205-1898delCACGCCACACACGCAGCCACACTGCCGC TGGGACAAATGAGGGGCGTCAGGCCA	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNST_chr1_246561456_246673595	246619852	GGTGCATA others(47): Show GGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTT CAGTC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	320	0.0031	-54	c.380 others(71): Show c.380-1551_380-1498delCACACTCTACAGGGAGGACGGCTTCAGT CGTGCATACACACGATGGGCTCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246620228	GGTGCATA others(47): Show GGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTT CAGTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	320	0.0031	-54	c.380 others(71): Show c.380-1169_380-1116delCTACAGGGAGGACGGCTTCAGTCGTGCA TACACACGATGGGCTCTGGGAACACT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246620360	AACACTCT others(47): Show AACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTC TGGGC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	320	0.0031	-54	c.380 others(70): Show c.380-1015_380-962delCACACTCTACAGGGAGGACGGCTTCAGTC GTGCATACACACGATGGGCTCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN1_chr12_40687439_41077415	40773642	TATATATA others(47): Show TATATATATATATACACATATATATATATATACACATATATATATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03516.hp1 HG03540.hp1 others(1): Show HG00741.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0005t0025 a0001c0001t0001 a0001c0005t0002 a0001c0005t0025	a0001c0001t0001g0095 a0001c0005t0002g0053 a0001c0005t0002g0210 others(1): Show a0001c0001t0001g0095 a0001c0005t0002g0053 a0001c0005t0002g0210 a0001c0005t0025g0052	4	230	0.0174	-54	c.-77 others(73): Show c.-77+81064_-77+81117delCACATATATATATATATACACATATA TATATATATATACACATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056891	TATATTTA others(47): Show TATATTTAGATATTTATAAATATTTATAATATTTAGATATTTATAAATAT TTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(37): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02145.hp1 HG02280.hp2 HG02818.hp2 HG02895.hp1 HG03225.hp2 HG03516.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18970.hp1 NA18974.hp2 NA18983.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19079.hp1 NA19083.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0005t0025 a0005c0010t0002	a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0016 others(37): Show a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0009g0181 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0012g0012 a0001c0001t0012g0125 a0001c0001t0018g0048 a0001c0002t0002g0221 a0001c0004t0002g0008 a0001c0005t0002g0053 a0001c0005t0002g0081 a0001c0005t0002g0173 a0001c0005t0002g0207 a0001c0005t0025g0052 a0005c0010t0002g0026	40	230	0.1739	-54	c.298 others(75): Show c.2981-13044_2981-12991delTATAATATTTAGATATTTATAAAT ATTTATAATATTTAGATATTTATAAATATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN2_chr1_205038212_205083289	205050276	TGAGTGTG others(47): Show TGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGAGAG AGAGA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	380	0.0026	-54	c.-86 others(71): Show c.-86-2819_-86-2766delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGACAGAGAGAGAGAGAGT	CNTN2	ENSG00000184144.12	transcript	ENST00000331830.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146712283	TGTATACA others(47): Show TGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACT ATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02486.hp1 HG00735.hp2 HG01891.hp1 HG02486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0019 a0004c0014 a0001c0001 a0001c0019 a0004c0014	a0001c0001t0007 a0001c0019t0006 a0004c0014t0021 a0001c0001t0007 a0001c0019t0006 a0004c0014t0021	a0001c0001t0007g0020 a0001c0019t0006g0015 a0004c0014t0021g0022 a0001c0001t0007g0020 a0001c0019t0006g0015 a0004c0014t0021g0022	3	40	0.0750	-54	c.98- others(71): Show c.98-61933_98-61880delGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(47): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03942.hp2 HG02698.hp2 HG03942.hp2	a0002 a0010 a0002 a0010	a0002c0005 a0010c0016 a0002c0005 a0010c0016	a0002c0005t0002 a0010c0016t0002 a0002c0005t0002 a0010c0016t0002	a0002c0005t0002g0194 a0010c0016t0002g0135 a0002c0005t0002g0194 a0010c0016t0002g0135	2	274	0.0073	-54	c.275 others(71): Show c.2755+434_2755+487delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG1_chr17_73188055_73213507	73192830	CCGCGCCC others(47): Show CCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGC CCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02735.hp1 NA18994.hp2 HG00558.hp1 HG02735.hp1 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0115 a0002c0006t0001g0093 a0002c0006t0001g0103 a0002c0001t0001g0115 a0002c0006t0001g0093 a0002c0006t0001g0103	3	428	0.0070	-54	c.-23 others(63): Show c.-239_-186delCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCC CCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		224		chr17	TogoVar
COG3_chr13_45459939_45541701	45513395	TTATACAT others(47): Show TTATACATATAATATATACATATAAATTATATATATAATATATACATATA AATTA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0154 a0002c0005t0013g0154	1	342	0.0029	-54	c.180 others(73): Show c.1809+1546_1809+1599delCATATAATATATACATATAAATTATA TATATAATATATACATATAAATTATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193833	AAGGGGAG others(47): Show AAGGGGAGAGAAGGAGAGGAGAAGGAGAAGGGAAATAAGGAGAGAGGGAG GGAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0099 a0003c0002t0003g0099	1	344	0.0029	-54	c.87+ others(71): Show c.87+29022_87+29075delGGGGAGAGAAGGAGAGGAGAAGGAGAAG GGAAATAAGGAGAGAGGGAGGGAGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	GGAAAGAA others(47): Show GGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0016 a0016	a0016c0064 a0016c0064	a0016c0064t0005 a0016c0064t0005	a0016c0064t0005g0178 a0016c0064t0005g0178	1	284	0.0035	-54	c.350 others(71): Show c.3505+307_3505+360delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTTTCTTTCTTTCTTTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041805	GAAGAAAG others(47): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0035 a0035	a0035c0037 a0035c0037	a0035c0037t0016 a0035c0037t0016	a0035c0037t0016g0003 a0035c0037t0016g0003	1	284	0.0035	-54	c.350 others(71): Show c.3505+289_3505+342delTCTTTCTTTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343523	AAAAAAAA others(47): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0040 a0040	a0040c0135 a0040c0135	a0040c0135t0008 a0040c0135t0008	a0040c0135t0008g0188 a0040c0135t0008g0188	1	322	0.0031	-54	c.766 others(71): Show c.7668+773_7668+826delGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
CPE_chr4_165374008_165503547	165382104	AAGGTCAG others(47): Show AAGGTCAGCAGGTCAGGGAGACTGGATTATTGAAGAATTGATGACAAAAG ACAGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02896.hp2 HG02559.hp2 HG02622.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0001g0326 a0001c0001t0002g0158 a0001c0001t0001g0157 a0001c0001t0001g0326 a0001c0001t0002g0158	3	332	0.0090	-54	c.307 others(71): Show c.307+2684_307+2737delTAGGTCAGCAGGTCAGGGAGACTGGATT ATTGAAGAATTGATGACAAAAGACAG	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX1_chr4_779957_831129	826319	GGGGGCGG others(47): Show GGGGGCGGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGG CGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	416	0.0024	-54	c.-40 others(63): Show c.-407_-354delGTCCGCCCCCCGCCCCCGCCCCCCGCCCCCGCCCCC GGGTCCACCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		191		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587946	GCCCCCCG others(47): Show GCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	348	0.0029	-54	c.928 others(69): Show c.928-723_928-670delCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587973	GCCCCCGT others(47): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19054.hp1 NA19066.hp1 NA18906.hp1 NA19054.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0141 a0001c0001t0001g0318 a0001c0007t0006g0293 a0001c0001t0001g0141 a0001c0001t0001g0318 a0001c0007t0006g0293	3	348	0.0086	-54	c.928 others(69): Show c.928-687_928-634delACAGATACACGGCCCCCCGTGTTACCCACA GATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPQ_chr8_96640242_97148501	97022997	AGTATATA others(47): Show AGTATATATATACTATATATAGTATATATATACAGTATATATACAGTATA TATAC	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	126	0.0079	-54	c.962 others(71): Show c.962-6405_962-6352delGTATATATATACTATATATAGTATATAT ATACAGTATATATACAGTATATATAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7			chr8	TogoVar
CPXM2_chr10_123740639_123896807	123857542	CGATGGAA others(47): Show CGATGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGAGATGGAAGGCGGC GTGGA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02717.hp2 HG02132.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0077 a0001c0002t0006g0158 a0001c0002t0002g0077 a0001c0002t0006g0158	2	288	0.0069	-54	c.513 others(71): Show c.513+5018_513+5071delTCCACGCCGCCTTCCATCTCCACGCCGC CTTCCATCTCCACGCCGCCTTCCATC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CRELD2_chr22_49913634_49932537	49926659	TCCCCTCT others(47): Show TCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01123.hp1 others(16): Show HG00438.hp1 HG00597.hp1 HG01123.hp1 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG03239.hp1 HG03704.hp1 HG03927.hp2 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18967.hp2 NA18980.hp2 NA19007.hp1 NA19012.hp1 NA19065.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0007 a0003c0004t0002 a0003c0004t0007	a0003c0004t0002g0002 a0003c0004t0002g0033 a0003c0004t0002g0034 others(5): Show a0003c0004t0002g0002 a0003c0004t0002g0033 a0003c0004t0002g0034 a0003c0004t0002g0178 a0003c0004t0002g0179 a0003c0004t0002g0184 a0003c0004t0002g0185 a0003c0004t0007g0176	19	324	0.0586	-54	c.101 others(71): Show c.1010-538_1010-485delCTCTTGCCCCTCCCTCCCCCCACCCCGG GTCCCCTCTTGCCCCTCCCTCCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRIP2_chr14_105469821_105485162	105477854	AGGCAGGT others(47): Show AGGCAGGTGTTGGAGCGCGGGCAGGTGTTGGAGCGCGGGCAGGTGTTGGA GCGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(182): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0004g0094 a0001c0001t0004g0101 a0001c0001t0004g0209 a0001c0001t0005g0211 a0001c0001t0006g0009 a0001c0001t0008g0001 a0001c0001t0009g0190 a0001c0001t0011g0143 a0001c0005t0001g0203 a0001c0006t0001g0096 a0002c0007t0001g0092	236	316	0.7468	-54	c.44- others(67): Show c.44-369_44-316delTGTTGGAGCGCGGGCAGGTGTTGGAGCGCGGG CAGGTGTTGGAGCGCGGGCAGG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CSF2RA_chrX_1263814_1314935	1279051	ATAAGTCA others(47): Show ATAAGTCAACCAAGAAGGCCGTACGTACAGTGGCTCACACCTGTCATCCC ATCAC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0153 a0009c0013t0003g0153	1	159	0.0063	-54	c.-26 others(71): Show c.-26-3625_-26-3572delAAGTCAACCAAGAAGGCCGTACGTACAG TGGCTCACACCTGTCATCCCATCACT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666777	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02698.hp2 HG04199.hp2 HG00642.hp2 HG02698.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0058 a0001c0002t0002g0084 a0001c0002t0002g0132 a0001c0001t0014g0058 a0001c0002t0002g0084 a0001c0002t0002g0132	3	238	0.0126	-54	c.-39 others(75): Show c.-391-64966_-391-64913delCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671506	TATATATG others(47): Show TATATATGATCATATATATGATCATATATATATATATATGATCATATATA TGATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01071.hp2 others(7): Show HG00099.hp2 HG00735.hp2 HG01071.hp2 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG03540.hp2 HG03579.hp1 NA19060.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0005 a0001c0007 a0001c0046 others(7): Show a0001c0005 a0001c0007 a0001c0046 a0001c0047 a0001c0073 a0002c0051 a0002c0070 a0003c0034 a0006c0116 a0009c0113	a0001c0005t0007 a0001c0007t0001 a0001c0046t0073 others(7): Show a0001c0005t0007 a0001c0007t0001 a0001c0046t0073 a0001c0047t0014 a0001c0073t0007 a0002c0051t0006 a0002c0070t0046 a0003c0034t0030 a0006c0116t0004 a0009c0113t0011	a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0046t0073g0091 others(7): Show a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0073t0007g0108 a0002c0051t0006g0081 a0002c0070t0046g0092 a0003c0034t0030g0038 a0006c0116t0004g0039 a0009c0113t0011g0043	10	126	0.0794	-54	c.100 others(75): Show c.1009+36854_1009+36907delGATCATATATATGATCATATATAT ATATATATGATCATATATATGATCATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772472	TATATATA others(47): Show TATATATACATATATACACATATATACATATATACACATATATACATATA TACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01243.hp2 others(7): Show HG00099.hp1 HG01074.hp1 HG01243.hp2 HG01255.hp1 HG01934.hp2 HG02559.hp2 HG02965.hp1 HG03669.hp1 HG06807.hp1 NA19090.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0028 a0030 a0032 a0035	a0001c0006 a0001c0043 a0002c0031 others(7): Show a0001c0006 a0001c0043 a0002c0031 a0002c0035 a0002c0092 a0004c0099 a0028c0097 a0030c0052 a0032c0011 a0035c0098	a0001c0006t0002 a0001c0043t0031 a0002c0031t0015 others(7): Show a0001c0006t0002 a0001c0043t0031 a0002c0031t0015 a0002c0035t0047 a0002c0092t0001 a0004c0099t0014 a0028c0097t0018 a0030c0052t0049 a0032c0011t0065 a0035c0098t0025	a0001c0006t0002g0109 a0001c0043t0031g0044 a0002c0031t0015g0001 others(7): Show a0001c0006t0002g0109 a0001c0043t0031g0044 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0092t0001g0011 a0004c0099t0014g0020 a0028c0097t0018g0089 a0030c0052t0049g0098 a0032c0011t0065g0101 a0035c0098t0025g0019	10	126	0.0794	-54	c.819 others(73): Show c.819-18484_819-18431delGTGTATATATGTATATATGTGTATAT ATGTATATATGTGTATATATGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920892	AAAAGAAA others(47): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03225.hp2 HG01071.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0002c0041 a0001c0025 a0002c0041	a0001c0025t0003 a0002c0041t0027 a0001c0025t0003 a0002c0041t0027	a0001c0025t0003g0077 a0002c0041t0027g0018 a0001c0025t0003g0077 a0002c0041t0027g0018	2	126	0.0159	-54	c.85+ others(71): Show c.85+73386_85+73439delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542618	ATATATAT others(47): Show ATATATATATATATATATATATGTATATATATATATATATATATATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02280.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02280.hp1 HG02559.hp2 HG03942.hp1 HG06807.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0044	a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0105 a0001c0001t0001g0218 a0001c0001t0004g0300 a0001c0001t0012g0082 a0001c0001t0044g0305	7	390	0.0180	-54	c.230 others(71): Show c.230+7403_230+7456delCATATATATATATATATATATATATATA TATACATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1967854	CCTCCTCC others(47): Show CCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGG TGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(61): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02027.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19070.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0002t0024 a0002c0006t0016 a0003c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0160 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0018g0282 a0001c0001t0020g0243 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0225 a0001c0002t0002g0234 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0267 a0001c0002t0002g0321 a0001c0002t0010g0224 a0001c0002t0019g0078 a0001c0002t0024g0025 a0002c0006t0016g0059 a0003c0005t0002g0060	64	382	0.1675	-54	c.-26 others(73): Show c.-265-1644_-265-1591delTCTCCCCAGGCTGCCCCCGACCACCC TTCAGTTCTGCAGGTGGGGCTCCTCCCT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967925	TCTCCCCA others(47): Show TCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCCTC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	382	0.0026	-54	c.-26 others(73): Show c.-265-1538_-265-1485delCTCCTCCCTCCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CTBP1_chr4_1206445_1254130	1240210	AACCGGGT others(47): Show AACCGGGTCCCTCGTCGGAACCGTGTGGGGCACTCCCGGGTGCTGGGTGA GTGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01123.hp2 others(6): Show HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0171 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0171 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0219	9	422	0.0213	-54	c.7+1 others(67): Show c.7+1061_7+1114delCCCACTCACCCAGCACCCGGGAGTGCCCCACA CGGTTCCGACGAGGGACCCGGT	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTCFL_chr20_57492166_57530140	57526409	TGGGGGGA others(47): Show TGGGGGGAATGGATAAGGAGGGGAAGAGGGCCCTCAGGGGGCGCTGGGAG ACCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	424	0.0024	-54	c.-14 others(65): Show c.-1447_-1394delCAGGTCTCCCAGCGCCCCCTGAGGGCCCTCTTCC CCTCCTTATCCATTCCCCCC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		1270		chr20	TogoVar
CTIF_chr18_48534031_48868217	48730314	TCTGCGGT others(47): Show TCTGCGGTGTGAGGGGCCCCTGCGGTGTGAGGGGCTCCTGCTGTGTGAGG GGCCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	144	0.0069	-54	c.584 others(73): Show c.584+18636_584+18689delCCCTGCGGTGTGAGGGGCTCCTGCTG TGTGAGGGGCCCCTGCGGTGTGAGGGGC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730374	GTGTGAGG others(47): Show GTGTGAGGGGCTCCTGCTGTGTGAGGGGCTTCCACGGTGTGTGGGGCCCC TGCGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0001 a0001c0001t0012g0090 a0001c0001t0006g0001 a0001c0001t0012g0090	2	144	0.0139	-54	c.584 others(73): Show c.584+18690_584+18743delTCCTGCTGTGTGAGGGGCTTCCACGG TGTGTGGGGCCCCTGCGCTGTGAGGGGC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730391	TGTGTGAG others(47): Show TGTGTGAGGGGCTTCCACGGTGTGTGGGGCCCCTGCGCTGTGAGGGGCCC CTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01243.hp2 others(1): Show HG00735.hp2 HG01081.hp2 HG01243.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0001c0002t0002	a0001c0001t0002g0097 a0001c0001t0003g0098 a0001c0001t0030g0108 others(1): Show a0001c0001t0002g0097 a0001c0001t0003g0098 a0001c0001t0030g0108 a0001c0002t0002g0038	4	144	0.0278	-54	c.584 others(73): Show c.584+18712_584+18765delACGGTGTGTGGGGCCCCTGCGCTGTG AGGGGCCCCTGTGGTGTGAGGGGCTTCC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730499	GGTGTGAG others(47): Show GGTGTGAGGGGCTTCTGCGGTGTGAGGGGCCCCTGTGGTGTGAGGGGCTT CTGCT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19043.hp1 NA19043.hp2 HG01106.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0043 a0001c0001t0004 a0001c0001t0031 a0001c0001t0043	a0001c0001t0004g0026 a0001c0001t0031g0018 a0001c0001t0043g0053 a0001c0001t0004g0026 a0001c0001t0031g0018 a0001c0001t0043g0053	3	144	0.0208	-54	c.584 others(73): Show c.584+18871_584+18924delTCTGCGGTGTGAGGGGCCCCTGTGGT GTGAGGGGCTTCTGCTGTGTGAGGGGCT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSD_chr11_1747755_1768927	1765052	GTATATAT others(47): Show GTATATATACATGTATATGTGTATATATGTGTATATATATACATGTATAT GTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00738.hp2 others(2): Show HG00280.hp1 HG00558.hp2 HG00738.hp2 HG03239.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0014 a0001c0001t0001 a0001c0001t0003 a0001c0005t0014	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0106 a0001c0001t0003g0074 a0001c0005t0014g0186	5	386	0.0130	-54	c.-12 others(65): Show c.-1247_-1194delTACACATATACATGTATATATATACACATATATA CACATATACATGTATATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1126		chr11	TogoVar
CYLD_chr16_50737086_50806935	50754980	CATATATA others(47): Show CATATATACATATATATGTATATATACATATATATGTATATATACATATA TATGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02647.hp1 HG02717.hp1 others(1): Show HG00544.hp2 HG02647.hp1 HG02717.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0003g0234 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0003g0234 a0001c0001t0003g0252	4	302	0.0133	-54	c.913 others(69): Show c.913+588_913+641delTATGTATATATACATATATATGTATATATA CATATATATGTATATATACATATA	CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr16	TogoVar

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