Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
CLDN14_chr21_36455621_36485122	36484160	AGGAAAAT others(49): Show AGGAAAATCCCACAAAACTGCCCCAAAGACGAGTGAGGTAGGAAGAGCAT GAGGCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	424	0.0024	-56	c.-48 others(67): Show c.-4803_-4748delGAGCCTCATGCTCTTCCTACCTCACTCGTCTTTG GGGCAGTTTTGTGGGATTTTCC		CLDN14	ENSG00000159261.12	transcript	ENST00000399135.6	protein_coding					4039		chr21	TogoVar
CLMP_chr11_123064872_123200248	123129346	AATATATC others(49): Show AATATATCATATGATATATTATATAAAATATATATCATATGATATATTAT ATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0210 a0001c0001t0008g0210	1	254	0.0039	-56	c.29- others(73): Show c.29-31450_29-31395delATTTTATATAATATATCATATGATATAT ATTTTATATAATATATCATATGATATAT		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLPTM1L_chr5_1312752_1350099	1326501	GACATTCC others(49): Show GACATTCCATCCAGCTCCTCCTCTACCGACACATTTCATCCAGCTCCTCC TCTAGAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0316 a0001c0001t0001g0317	2	370	0.0054	-56	c.108 others(73): Show c.1081-741_1081-686delGTCTAGAGGAGGAGCTGGATGAAATGTG TCGGTAGAGGAGGAGCTGGATGGAATGT		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16						chr5	TogoVar
CLUL1_chr18_591988_655182	633791	ATGTAATC others(49): Show ATGTAATCGGAATGAATCAGGGCGGAGCGTGTAATCGGAATGAATCAGGG CGGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp1 HG01258.hp2 others(2): Show HG00323.hp1 HG01257.hp1 HG01258.hp2 HG02080.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0159 a0001c0001t0001g0298 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0320 a0001c0001t0004g0060	5	414	0.0121	-56	c.994 others(71): Show c.994+378_994+433delCGGAGCGTGTAATCGGAATGAATCAGGGCG GAGCGTGTAATCGGAATGAATCAGGG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	633813	CGGAGCGT others(49): Show CGGAGCGTGTAATCGGAATGAATCAGGGCGGAGCGTGTAATCGGAATGAA TCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(82): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0004t0003 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0049 others(81): Show a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0308 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0001g0382 a0001c0001t0001g0398 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0407 a0001c0001t0001g0409 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0126 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0002g0347 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0322 a0001c0001t0003g0341 a0001c0001t0004g0054 a0001c0001t0004g0070 a0001c0001t0004g0137 a0001c0001t0004g0140 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0006g0264 a0001c0001t0009g0218 a0001c0002t0001g0270 a0001c0002t0001g0285 a0001c0004t0003g0344 a0005c0007t0001g0282	85	414	0.2053	-56	c.994 others(71): Show c.994+393_994+448delGAATGAATCAGGGCGGAGCGTGTAATCGGA ATGAATCAGGGTGGAGCGTGTAATCG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNBD1_chr8_86861415_87387859	87030886	CCCTCCCC others(49): Show CCCTCCCCTCTCCTCCCCACCTCCTCCTCCCCCCCTCCTCCTGCCCCCCT TCCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18951.hp2 NA18980.hp2 NA18946.hp2 NA18951.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127	3	152	0.0197	-56	c.431 others(75): Show c.431+91140_431+91195delTCTCCTCCCCACCTCCTCCTCCCCCC CTCCTCCTGCCCCCCTTCCCCCTCCTCCCC		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNNM4_chr2_96755902_96816874	96801600	ACACAGAG others(49): Show ACACAGAGACCACACACAGAGACCACACGCAGAGAGACCACACACATGCA GAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp1 HG02630.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	270	0.0074	-56	c.194 others(75): Show c.1948+1957_1948+2012delGAGACCACACACAGAGACCACACGCA GAGAGACCACACACATGCAGAGAGACCACA		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNST_chr1_246561456_246673595	246620169	ATCGTGGT others(49): Show ATCGTGGTGCATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGG CTTCATC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00738.hp2 others(57): Show HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG03017.hp1 HG03540.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 others(56): Show a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0304 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0107 a0001c0001t0002g0183 a0001c0001t0002g0225 a0001c0001t0003g0003 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0109 a0001c0001t0003g0137 a0001c0001t0003g0144 a0001c0001t0003g0163 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0003g0261 a0001c0001t0003g0270 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0007g0062 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0286 a0001c0001t0012g0001 a0001c0001t0014g0165	60	320	0.1875	-56	c.380 others(73): Show c.380-1259_380-1204delTCGTGGTGCATACACACGATGGGCTCTG GGCACACTACAGGGAGGACGGCTTCATC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNTN1_chr12_40687439_41077415	40773640	TATATATA others(49): Show TATATATATATATATACACATATATATATATATACACATATATATATATA TATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp2 HG02083.hp2 others(4): Show HG00099.hp2 HG01433.hp2 HG02083.hp2 HG03471.hp1 NA18952.hp2 NA18957.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002	a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 others(4): Show a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0007g0055 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0003t0002g0128	7	230	0.0304	-56	c.-77 others(75): Show c.-77+81064_-77+81119delCACATATATATATATATACACATATA TATATATATATACACATATATATATATATA		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2419418	TCAGGATA others(49): Show TCAGGATATATTCAACGTTTATTTGTTCCTAGGCAGGGTACAGAATAAAC TGATACC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0003 a0001c0002t0005g0003	1	116	0.0086	-56	c.-89 others(75): Show c.-89+80187_-89+80242delAGGATATATTCAACGTTTATTTGTTC CTAGGCAGGGTACAGAATAAACTGATACCC		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99598282	TTCTTTTC others(49): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTCCCT CTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp2 HG02132.hp1 others(1): Show HG00733.hp1 HG01081.hp2 HG02132.hp1 HG02735.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0003c0003t0002	a0001c0001t0009g0063 a0001c0001t0010g0047 a0001c0001t0016g0049 others(1): Show a0001c0001t0009g0063 a0001c0001t0010g0047 a0001c0001t0016g0049 a0003c0003t0002g0061	4	66	0.0606	-56	c.55+ others(73): Show c.55+42017_55+42072delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTGTCCCTCTCTCTCTCT		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	148414469	GGTTTCTA others(49): Show GGTTTCTAATAGCTATTGTACTGTCCTCATCTGCTCATTCCATGCTCTGT CCTTTCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0002c0017 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0008t0001 a0001c0010t0002 a0001c0011t0016 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0017t0015 a0005c0007t0017	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0011t0016g0019 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0017t0015g0037 a0005c0007t0017g0031	22	40	0.5500	-56	c.379 others(73): Show c.3797-890_3797-835delTTTCTAATAGCTATTGTACTGTCCTCAT CTGCTCATTCCATGCTCTGTCCTTTCTG		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124713281	CTTTCTTT others(49): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCCTTTCTTTCTTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	64	0.0156	-56	c.207 others(77): Show c.2078-33946_2078-33891delTTCTTTCTTTCTTTCTTTCTTCTT TCTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860414	CCCTTCCT others(49): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02717.hp1 others(2): Show HG02145.hp1 HG02257.hp1 HG02717.hp1 HG03130.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0010 a0004c0007t0001	a0001c0001t0001g0033 a0001c0001t0004g0052 a0001c0002t0001g0005 others(2): Show a0001c0001t0001g0033 a0001c0001t0004g0052 a0001c0002t0001g0005 a0001c0002t0010g0032 a0004c0007t0001g0017	5	64	0.0781	-56	c.321 others(75): Show c.3218-4858_3218-4803delCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COG1_chr17_73188055_73213507	73192842	CCGCCCCC others(49): Show CCGCCCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCC GCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03654.hp1 NA18964.hp1 others(2): Show HG02622.hp1 HG03654.hp1 NA18964.hp1 NA18966.hp2 NA19003.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0027 a0002c0001t0001g0053 others(1): Show a0002c0001t0001g0021 a0002c0001t0001g0027 a0002c0001t0001g0053 a0002c0001t0001g0059	5	428	0.0117	-56	c.-22 others(65): Show c.-227_-172delCGCCCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCG CCCCCTCGCGCCCGCCCCCT		COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding					212		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45493559	CCCAGAAA others(49): Show CCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGT GGGGGCT	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0026 a0026	a0026c0086 a0026c0086	a0026c0086t0002 a0026c0086t0002	a0026c0086t0002g0176 a0026c0086t0002g0176	1	292	0.0034	-56	c.233 others(68): Show c.2339_2352+42delAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTC CTTCCGGCAGGCGTGGGGGCTCC	p.Gln others(5): Show p.Gln780fs	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	26/42	2405/5408	2339/4020	780/1339		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63335316	ACCCTTCA others(49): Show ACCCTTCACCACAAGATGGCGGATCCCAGCCCTTCACCACAAGATGGCGG ATCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(76): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0010 a0013 a0014 a0029	a0001c0001 a0001c0005 a0001c0022 others(8): Show a0001c0001 a0001c0005 a0001c0022 a0001c0032 a0001c0044 a0002c0002 a0005c0007 a0010c0013 a0013c0019 a0014c0027 a0029c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0043 a0001c0005t0002 a0001c0005t0012 a0001c0022t0026 a0001c0032t0005 a0001c0044t0005 a0002c0002t0002 a0002c0002t0018 a0005c0007t0002 a0010c0013t0002 a0013c0019t0005 a0014c0027t0002 a0029c0030t0002	a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 others(69): Show a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0005g0003 a0001c0001t0005g0092 a0001c0001t0005g0168 a0001c0001t0012g0060 a0001c0001t0016g0062 a0001c0001t0016g0090 a0001c0001t0018g0148 a0001c0001t0020g0039 a0001c0001t0020g0082 a0001c0001t0027g0208 a0001c0001t0029g0196 a0001c0001t0030g0161 a0001c0001t0031g0048 a0001c0001t0043g0166 a0001c0005t0002g0046 a0001c0005t0002g0061 a0001c0005t0002g0207 a0001c0005t0002g0232 a0001c0005t0012g0007 a0001c0005t0012g0153 a0001c0022t0026g0199 a0001c0032t0005g0171 a0001c0044t0005g0167 a0002c0002t0002g0112 a0002c0002t0018g0117 a0005c0007t0002g0204 a0010c0013t0002g0141 a0010c0013t0002g0236 a0013c0019t0005g0183 a0014c0027t0002g0102 a0029c0030t0002g0022	79	290	0.2724	-56	c.46 others(67): Show c.4601_*4656delCCCTTCACCACAAGATGGCGGATCCCAGCCCTTC ACCACAAGATGGCGGATCCCAG		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding					511		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56211181	ATATATGT others(49): Show ATATATGTATATATGTATATATACATATATATGTATATGTATATATACAT ATATATG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02040.hp2 HG02132.hp2 others(6): Show HG01358.hp2 HG02040.hp2 HG02132.hp2 HG02155.hp1 HG03669.hp1 HG03688.hp2 NA18939.hp1 NA19083.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0115 others(6): Show a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0153 a0002c0003t0001g0232 a0002c0003t0001g0252 a0002c0003t0003g0044 a0002c0003t0003g0071	9	264	0.0341	-56	c.-38 others(75): Show c.-38-28581_-38-28526delCATATATATGTATATATACATATACA TATATATGTATATATACATATATACATATA		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29						chr6	TogoVar
COL26A1_chr7_101357875_101564024	101547777	GTTCATTC others(49): Show GTTCATTCATTCATTCATTTGTCCATTCATTCATTCGTTCATTCATTCAT TCGTTTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02572.hp1 others(5): Show HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02818.hp2 HG03486.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0009 a0002c0003t0001 a0002c0003t0026 others(1): Show a0001c0001t0009 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001	a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0159 others(5): Show a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0159 a0002c0003t0001g0065 a0002c0003t0001g0161 a0002c0003t0026g0107 a0002c0004t0001g0156 a0002c0004t0001g0157	8	174	0.0460	-56	c.940 others(71): Show c.940+558_940+613delGTCCATTCATTCATTCGTTCATTCATTCAT TCGTTTATTCATTCATTCATTCATTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110219822	ATATATGT others(49): Show ATATATGTATGTATGTATATATGTGTATATATATGTATATATGTGTGTGT ATATATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG02809.hp1 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0018 a0003c0103 a0002c0018 a0003c0103	a0002c0018t0001 a0003c0103t0001 a0002c0018t0001 a0003c0103t0001	a0002c0018t0001g0171 a0003c0103t0001g0240 a0002c0018t0001g0171 a0003c0103t0001g0240	2	344	0.0058	-56	c.145 others(73): Show c.145-5863_145-5808delCATATATACACACACATATATACATATA TATACACATATATACATACATACATATA		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252445	GTATATGT others(49): Show GTATATGTATTATATACATATAATTATATGTATTATATATACGTATAATT ATACGTA	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0298 a0003c0014t0002g0298	1	344	0.0029	-56	c.85- others(71): Show c.85-9767_85-9712delTACGTATAATTATACGTATATATAATACAT ATAATTATATGTATATAATACATATA		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	TGTGTGTG others(49): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0136 a0003c0038t0001g0136	1	272	0.0037	-56	c.925 others(71): Show c.925-431_925-376delAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CREM_chr10_35121846_35217953	35187152	TATAATAT others(49): Show TATAATATATATTATATATTAATATTAATATATAAATATATTAATATATA ATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(69): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp2 HG02738.hp2 HG03041.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp2 NA18972.hp2 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0001c0001t0002 a0001c0001t0007 a0001c0003t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 others(69): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0003t0002g0041 a0001c0003t0002g0042	72	294	0.2449	-56	c.410 others(72): Show c.410-1047_410-992delATAATATATATTATATATTAATATTAATA TATAAATATATTAATATATAATATATA		CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7						chr10	TogoVar
CRISPLD1_chr8_74979505_75039558	75030730	GTATATAT others(49): Show GTATATATGTATGAGTGTGTGTATATATGTGTGTATATGTATATGTGTGT GACTGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG02004.hp1 others(7): Show HG01081.hp2 HG01123.hp1 HG02004.hp1 HG02647.hp1 HG02886.hp2 HG03209.hp2 HG03516.hp1 HG03834.hp2 HG04204.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0005 a0001c0004t0023 a0001c0001t0005 a0001c0002t0005 a0001c0004t0023	a0001c0001t0005g0030 a0001c0001t0005g0226 a0001c0001t0005g0227 others(5): Show a0001c0001t0005g0030 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0002t0005g0029 a0001c0002t0005g0225 a0001c0004t0023g0224	10	368	0.0272	-56	c.145 others(75): Show c.1451+1219_1451+1274delATGTATGAGTGTGTGTATATATGTGT GTATATGTATATGTGTGTGACTGTATATAT		CRISPLD1	ENSG00000121005.9	transcript	ENST00000262207.9	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
CRLF2_chrX_1185490_1217649	1211485	ATGGATGG others(49): Show ATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGAT GTATTGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	167	0.0060	-56	c.79+ others(71): Show c.79+1015_79+1070delCCAATACATCCATCTATCCATGCATTCACC CACACTTTTATCCACTTATCCATCCA		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7						chrX	TogoVar
CRTC1_chr19_18678680_18787333	18785781	ACACACGT others(49): Show ACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGC ACACGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	274	0.0037	-56	c.84 others(67): Show c.8400_*8455delCACACGTCGATCTTGTCTACCACCTTGTCTGCAT CAAAGTCGTCCTGGCACACGTC		CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding					3449		chr19	TogoVar
CSMD1_chr8_2930361_4999914	3025127	TGTGTATT others(49): Show TGTGTATTGTGTGGTGTTATTCTGAAACTGTGTATTGTGTGGTGTTATTC TGATACC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG02055.hp1 others(12): Show HG01261.hp2 HG01934.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp1 NA18979.hp2 NA19043.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0007 a0008 a0015 a0019 a0020 a0024 a0025 a0031 a0035	a0001c0002 a0001c0003 a0001c0050 others(12): Show a0001c0002 a0001c0003 a0001c0050 a0001c0080 a0002c0074 a0004c0034 a0007c0083 a0008c0088 a0015c0063 a0019c0082 a0020c0112 a0024c0052 a0025c0066 a0031c0113 a0035c0023	a0001c0002t0028 a0001c0003t0019 a0001c0050t0053 others(12): Show a0001c0002t0028 a0001c0003t0019 a0001c0050t0053 a0001c0080t0040 a0002c0074t0041 a0004c0034t0030 a0007c0083t0004 a0008c0088t0076 a0015c0063t0010 a0019c0082t0052 a0020c0112t0081 a0024c0052t0049 a0025c0066t0010 a0031c0113t0011 a0035c0023t0001	a0001c0002t0028g0005 a0001c0003t0019g0107 a0001c0050t0053g0120 others(12): Show a0001c0002t0028g0005 a0001c0003t0019g0107 a0001c0050t0053g0120 a0001c0080t0040g0025 a0002c0074t0041g0031 a0004c0034t0030g0038 a0007c0083t0004g0006 a0008c0088t0076g0057 a0015c0063t0010g0045 a0019c0082t0052g0097 a0020c0112t0081g0090 a0024c0052t0049g0098 a0025c0066t0010g0032 a0031c0113t0011g0043 a0035c0023t0001g0052	15	126	0.1191	-56	c.785 others(75): Show c.7855+4136_7855+4191delGGTATCAGAATAACACCACACAATAC ACAGTTTCAGAATAACACCACACAATACAC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671504	TATATATA others(49): Show TATATATATGATCATATATATGATCATATATATATATATATGATCATATA TATGATC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG06807.hp2 others(2): Show HG02572.hp1 HG02965.hp1 HG06807.hp2 NA18983.hp1 NA19090.hp2	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0024	a0001c0061 a0001c0068 a0002c0092 others(2): Show a0001c0061 a0001c0068 a0002c0092 a0018c0042 a0024c0052	a0001c0061t0001 a0001c0068t0015 a0002c0092t0001 others(2): Show a0001c0061t0001 a0001c0068t0015 a0002c0092t0001 a0018c0042t0004 a0024c0052t0049	a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0092t0001g0011 others(2): Show a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0092t0001g0011 a0018c0042t0004g0004 a0024c0052t0049g0098	5	126	0.0397	-56	c.100 others(77): Show c.1009+36854_1009+36909delGATCATATATATGATCATATATAT ATATATATGATCATATATATGATCATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3684241	TTTATATA others(49): Show TTTATATATTATATAAAATATATAGCTATATGTTATATATTATATATAAT ATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18971.hp1 NA18995.hp1 HG02074.hp2 NA18971.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0109 a0002c0077 a0002c0091 a0001c0109 a0002c0077 a0002c0091	a0001c0109t0038 a0002c0077t0001 a0002c0091t0002 a0001c0109t0038 a0002c0077t0001 a0002c0091t0002	a0001c0109t0038g0013 a0002c0077t0001g0016 a0002c0091t0002g0114 a0001c0109t0038g0013 a0002c0077t0001g0016 a0002c0091t0002g0114	3	126	0.0238	-56	c.100 others(77): Show c.1009+24117_1009+24172delTTTATATATTATATATAATATATA ACATATAGCTATATATTTTATATAATATATAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838640	TAATATTA others(49): Show TAATATTATATAGTATAATATATAATAAATTAATATTATATAGTATAATA TATAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(38): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01261.hp1 HG01934.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03669.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0017 a0024 a0025 a0026 a0027 a0035 a0039	a0001c0001 a0001c0003 a0001c0004 others(38): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0017 a0001c0019 a0001c0020 a0001c0040 a0001c0061 a0001c0073 a0001c0079 a0001c0080 a0001c0081 a0001c0094 a0001c0102 a0001c0108 a0001c0114 a0002c0012 a0002c0015 a0002c0030 a0002c0048 a0002c0070 a0002c0075 a0002c0091 a0002c0092 a0003c0056 a0003c0086 a0005c0065 a0005c0107 a0006c0067 a0007c0083 a0010c0096 a0012c0011 a0017c0101 a0024c0052 a0025c0066 a0026c0100 a0027c0110 a0035c0023 a0039c0010	a0001c0001t0039 a0001c0003t0019 a0001c0004t0020 others(38): Show a0001c0001t0039 a0001c0003t0019 a0001c0004t0020 a0001c0005t0007 a0001c0007t0001 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0040t0019 a0001c0061t0001 a0001c0073t0007 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0094t0002 a0001c0102t0005 a0001c0108t0054 a0001c0114t0003 a0002c0012t0017 a0002c0015t0021 a0002c0030t0016 a0002c0048t0013 a0002c0070t0046 a0002c0075t0026 a0002c0091t0002 a0002c0092t0001 a0003c0056t0062 a0003c0086t0002 a0005c0065t0023 a0005c0107t0068 a0006c0067t0059 a0007c0083t0004 a0010c0096t0067 a0012c0011t0065 a0017c0101t0008 a0024c0052t0049 a0025c0066t0010 a0026c0100t0017 a0027c0110t0074 a0035c0023t0001 a0039c0010t0070	a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0004t0020g0086 others(38): Show a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0040t0019g0123 a0001c0061t0001g0021 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0108t0054g0074 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0048t0013g0015 a0002c0070t0046g0092 a0002c0075t0026g0051 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0056t0062g0072 a0003c0086t0002g0118 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0067t0059g0079 a0007c0083t0004g0006 a0010c0096t0067g0116 a0012c0011t0065g0101 a0017c0101t0008g0023 a0024c0052t0049g0098 a0025c0066t0010g0032 a0026c0100t0017g0121 a0027c0110t0074g0082 a0035c0023t0001g0052 a0039c0010t0070g0084	41	126	0.3254	-56	c.819 others(75): Show c.819-84654_819-84599delTATTATATATTATACTATATAATATT AATTTATTATATATTATACTATATAATATT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838727	AATATTAT others(49): Show AATATTATATAGTATAATATATAATAAATATTATATAGTATAATATATAA TAAATTG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02615.hp2 HG03540.hp2 others(3): Show HG01071.hp2 HG02615.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp2 NA18984.hp1	a0001 a0031 a0033 a0001 a0031 a0033	a0001c0004 a0001c0006 a0001c0047 others(3): Show a0001c0004 a0001c0006 a0001c0047 a0001c0059 a0031c0113 a0033c0013	a0001c0004t0063 a0001c0006t0002 a0001c0047t0014 others(3): Show a0001c0004t0063 a0001c0006t0002 a0001c0047t0014 a0001c0059t0001 a0031c0113t0011 a0033c0013t0007	a0001c0004t0063g0095 a0001c0006t0002g0109 a0001c0047t0014g0024 others(3): Show a0001c0004t0063g0095 a0001c0006t0002g0109 a0001c0047t0014g0024 a0001c0059t0001g0036 a0031c0113t0011g0043 a0033c0013t0007g0112	6	126	0.0476	-56	c.819 others(75): Show c.819-84741_819-84686delCAATTTATTATATATTATACTATATA ATATTTATTATATATTATACTATATAATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920882	AAAAGAAA others(49): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA GAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	-56	c.85+ others(73): Show c.85+73394_85+73449delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542616	ATATATAT others(49): Show ATATATATATATATATATATATATGTATATATATATATATATATATATAT ATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03704.hp1 HG01109.hp1 HG01891.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0036 a0001c0001t0004 a0001c0001t0012 a0001c0001t0036	a0001c0001t0004g0299 a0001c0001t0012g0084 a0001c0001t0036g0304 a0001c0001t0004g0299 a0001c0001t0012g0084 a0001c0001t0036g0304	3	390	0.0077	-56	c.230 others(73): Show c.230+7403_230+7458delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CT45A3_chrX_135755044_135773191	135759358	ATATATAT others(49): Show ATATATATATATATATATATACCATATATATATGGTATATATACCATATA TATATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02451.hp2 HG00597.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0001 a0001c0001t0001g0076	2	160	0.0125	-56	c.93 others(65): Show c.938_*993delCCATATATATATGGTATATATACCATATATATATGG TATATATATATATATATATA		CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding					685		chrX	TogoVar
CTDP1_chr18_79674803_79759503	79745287	CCCTGCGT others(49): Show CCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCG TTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(14): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02080.hp1 HG02559.hp1 HG03516.hp1 HG04204.hp1 NA18950.hp1 NA18962.hp1 NA18964.hp1 NA18984.hp2 NA18987.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0017 others(2): Show a0001c0001 a0001c0007 a0001c0017 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0007t0003 a0001c0017t0003 others(3): Show a0001c0001t0002 a0001c0007t0003 a0001c0017t0003 a0002c0002t0001 a0002c0002t0016 a0003c0005t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0007t0003g0347 others(14): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0007t0003g0347 a0001c0007t0003g0363 a0001c0017t0003g0015 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0240 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0261 a0002c0002t0016g0299 a0003c0005t0002g0129 a0003c0005t0002g0130	17	378	0.0450	-56	c.274 others(75): Show c.2748-8362_2748-8307delTGCGTCCCTCCCGTGCGCGTTCTGTC CCTGCGTCCCTCCCGTGCGCGTTCTGTGCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745318	TGCGTCCC others(49): Show TGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTC TGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01257.hp2 others(9): Show HG00140.hp1 HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01975.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0010 a0001c0003t0001 a0001c0003t0010	a0001c0003t0001g0003 a0001c0003t0001g0028 a0001c0003t0001g0035 others(8): Show a0001c0003t0001g0003 a0001c0003t0001g0028 a0001c0003t0001g0035 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0051 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0010g0044	12	378	0.0318	-56	c.274 others(75): Show c.2748-8309_2748-8254delGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745475	CGTTCTGT others(49): Show CGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGG	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0309 a0004c0004t0001g0309	1	378	0.0027	-56	c.274 others(75): Show c.2748-8121_2748-8066delGGTTCTGTCCCCGCGTCCCTCCCGTG CGCGTTCTGTCCCCGCGTCCCTCCCGTGCG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745539	CCCCGCGT others(49): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp1 HG02717.hp2 others(2): Show HG01074.hp1 HG02486.hp1 HG02717.hp2 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0200 others(2): Show a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0200 a0001c0008t0001g0203 a0001c0008t0001g0204	5	378	0.0132	-56	c.274 others(75): Show c.2748-8085_2748-8030delCCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745567	CCCCGCGT others(49): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	378	0.0027	-56	c.274 others(75): Show c.2748-7945_2748-7890delGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745811	CGTTCTGT others(49): Show CGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0312 a0004c0004t0001g0312	1	378	0.0027	-56	c.274 others(75): Show c.2748-7785_2748-7730delGGTTCTGTCCCCGCGTCCCTCCCGTG CGCGTTCTGTCCCCGCGTCCCTCCCGTGCG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745875	CCCCGCGT others(49): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18957.hp2 NA19088.hp2 HG01255.hp2 NA18957.hp2 NA19088.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0018 a0015c0033 a0001c0001 a0001c0018 a0015c0033	a0001c0001t0002 a0001c0018t0001 a0015c0033t0002 a0001c0001t0002 a0001c0018t0001 a0015c0033t0002	a0001c0001t0002g0147 a0001c0018t0001g0085 a0015c0033t0002g0146 a0001c0001t0002g0147 a0001c0018t0001g0085 a0015c0033t0002g0146	3	378	0.0079	-56	c.274 others(75): Show c.2748-7749_2748-7694delCCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745903	CCCCGCGT others(49): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 HG01169.hp1 others(6): Show HG00673.hp1 HG01167.hp1 HG01169.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03579.hp1 NA18957.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0001c0036 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0014t0001 a0001c0036t0001 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0002g0020 a0001c0001t0002g0021 others(6): Show a0001c0001t0001g0084 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0003t0001g0064 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013 a0002c0002t0001g0249 a0002c0002t0001g0295	9	378	0.0238	-56	c.274 others(75): Show c.2748-7609_2748-7554delGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746071	GCCCGCGT others(49): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19064.hp2 HG02109.hp1 NA19064.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0030 a0004c0004 a0008c0030	a0004c0004t0001 a0008c0030t0001 a0004c0004t0001 a0008c0030t0001	a0004c0004t0001g0309 a0008c0030t0001g0082 a0004c0004t0001g0309 a0008c0030t0001g0082	2	378	0.0053	-56	c.274 others(75): Show c.2748-7505_2748-7450delCGTTCTGTCCCCGCGTCCCTCCCGTG CGCGTTCTGTCCCCGCGTCCCTCCCGTGCG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746182	TCCCCGCG others(49): Show TCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGC GTTCTGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18964.hp1 NA20129.hp2 HG01243.hp2 NA18964.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0008g0097 a0002c0002t0001g0249 a0002c0002t0001g0291 a0001c0001t0008g0097 a0002c0002t0001g0249 a0002c0002t0001g0291	3	378	0.0079	-56	c.274 others(75): Show c.2748-7449_2748-7394delGGTTCTGTCCCCGCGTCCCTCCCGTG CGCGTTCTGACCCCGCGTCCCTCCCGTGCG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746310	GTGCGCGT others(49): Show GTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGACCCTGCGTC CCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp1 NA19043.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0041 a0001c0001 a0001c0041	a0001c0001t0008 a0001c0041t0013 a0001c0001t0008 a0001c0041t0013	a0001c0001t0008g0098 a0001c0001t0008g0101 a0001c0041t0013g0096 a0001c0001t0008g0098 a0001c0001t0008g0101 a0001c0041t0013g0096	3	378	0.0079	-56	c.274 others(75): Show c.2748-7327_2748-7272delCCGCGTCCCTCCCGTGCGCGTTCTGA CCCTGCGTCCCTCCCATGCGCGTTCTGTCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSPL2_chr15_44422629_44534038	44506336	CCCATTGG others(49): Show CCCATTGGTAACTTTTAATATAAATCATATAAATCACCTATATGAATACA TTAAGCT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0044 a0001c0002t0005g0044	1	234	0.0043	-56	c.969 others(73): Show c.969+6524_969+6579delCCATTGGTAACTTTTAATATAAATCATA TAAATCACCTATATGAATACATTAAGCT		CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12						chr15	TogoVar
CTSD_chr11_1747755_1768927	1765072	GTATATAT others(49): Show GTATATATGTGTATATATATACATGTATATGTGTATATATATACATGTAT ATGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0063 a0001c0005t0002g0063	1	386	0.0026	-56	c.-12 others(67): Show c.-1269_-1214delTACACATATACATGTATATATATACACATATACA TGTATATATATACACATATATA		CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding					1146		chr11	TogoVar
CYLD_chr16_50737086_50806935	50755142	CATATGTG others(49): Show CATATGTGTGTATATACACACGTGTACATATGTGTGTGTATATACACACG TGTACAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0251 a0001c0001t0025g0251	1	302	0.0033	-56	c.913 others(71): Show c.913+721_913+776delATGTGTGTATATACACACGTGTACATATGT GTGTGTATATACACACGTGTACATAT		CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP1A1_chr15_74714542_74730528	74715082	ATATATTA others(49): Show ATATATTATATATAATATACACACACACACACACCCCTCCATATACATTA TATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	434	0.0023	-56	c.53 others(67): Show c.5351_*5406delATATATATAATGTATATGGAGGGGTGTGTGTGTG TGTGTATATTATATATAATATA		CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding					4459		chr15	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(49): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA GAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01256.hp2 others(20): Show HG00099.hp2 HG00639.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp2 HG01981.hp2 HG02004.hp2 HG02132.hp2 HG03041.hp2 HG03516.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18962.hp1 NA18984.hp2 NA19004.hp2 NA19054.hp1 NA19067.hp2 NA19072.hp2 NA19077.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0011 a0018 a0031	a0001c0001 a0002c0003 a0002c0008 others(4): Show a0001c0001 a0002c0003 a0002c0008 a0006c0016 a0011c0012 a0018c0017 a0031c0032	a0001c0001t0002 a0002c0003t0001 a0002c0008t0001 others(4): Show a0001c0001t0002 a0002c0003t0001 a0002c0008t0001 a0006c0016t0001 a0011c0012t0001 a0018c0017t0001 a0031c0032t0001	a0001c0001t0002g0034 a0002c0003t0001g0007 a0002c0003t0001g0063 others(6): Show a0001c0001t0002g0034 a0002c0003t0001g0007 a0002c0003t0001g0063 a0002c0003t0001g0111 a0002c0008t0001g0057 a0006c0016t0001g0200 a0011c0012t0001g0023 a0018c0017t0001g0033 a0031c0032t0001g0112	23	398	0.0578	-56	c.344 others(71): Show c.344-191_344-136delCTCTCTCTCTCTCTCTCTCTCCCTCGTGTT TCTCTGACTGAGTTTGCACCTGTCCT		CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8						chr19	TogoVar

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