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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL1A1_chr17_50179101_50206631	50202811	TTGGGGGT others(26): Show TTGGGGGTGTGGGATGGGCTGCAGAGGATGATTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	446	0.0022	-33	c.-13 others(44): Show c.-1331_-1299delCAATCATCCTCTGCAGCCCATCCCACACCCCCA	COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding		1181		chr17	TogoVar
COL23A1_chr5_178232618_178595393	178301983	CTCAATCC others(26): Show CTCAATCCACCTCTGTGTGTGCCGGAGCACAGCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0001 a0002c0002t0001 a0003c0007t0001	a0002c0002t0001g0040 a0003c0007t0001g0030 a0002c0002t0001g0040 a0003c0007t0001g0030	2	221	0.0090	-33	c.406 others(50): Show c.406+4859_406+4891delAGCTGTGCTCCGGCACACACAGAGGTGG ATTGA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178302237	GTCAATCC others(26): Show GTCAATCCACCTCTGTGTGCGCCGGAGCACGGCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG01256.hp2 others(21): Show HG00280.hp1 HG01167.hp2 HG01256.hp2 HG01361.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp2 HG02615.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04228.hp1 NA18955.hp2 NA18971.hp1 NA18990.hp2 NA19002.hp1 NA19056.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0005t0004 a0002c0002t0001 a0002c0002t0010 a0002c0003t0002 a0002c0003t0003 a0003c0004t0003 a0004c0006t0003 a0004c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0058 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0058 a0001c0001t0004g0011 a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0004g0218 a0001c0001t0005g0084 a0001c0001t0005g0222 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0004g0023 a0002c0002t0001g0052 a0002c0002t0001g0181 a0002c0002t0010g0228 a0002c0003t0002g0104 a0002c0003t0003g0168 a0003c0004t0003g0127 a0003c0004t0003g0156 a0003c0004t0003g0217 a0004c0006t0003g0171 a0004c0011t0001g0086	24	124	0.1935	-33	c.406 others(50): Show c.406+4605_406+4637delAGCCGTGCTCCGGCGCACACAGAGGTGG ATTGA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178302414	GTGTGTGC others(26): Show GTGTGTGCGCCGGAGCACGGCTTCAATCCACCTC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	236	0.0042	-33	c.406 others(50): Show c.406+4428_406+4460delGAGGTGGATTGAAGCCGTGCTCCGGCGC ACACA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178372899	CTTTTCTT others(26): Show CTTTTCTTTTTCTTTCTTTCTCTTTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp1 HG03209.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0008 a0001c0001t0005 a0002c0003t0008	a0001c0001t0005g0161 a0002c0003t0008g0231 a0001c0001t0005g0161 a0002c0003t0008g0231	2	236	0.0085	-33	c.362 others(52): Show c.362-66013_362-65981delAAGAAAGAAAAAGAGAAAGAAAGAAA AAGAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489723	TTCTCTCT others(26): Show TTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01928.hp1 HG01928.hp2 others(7): Show HG00733.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02965.hp1 HG03669.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0005t0002 a0002c0004t0001 a0002c0006t0004	a0001c0001t0002g0092 a0001c0001t0002g0135 a0001c0001t0002g0146 others(7): Show a0001c0001t0002g0092 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0006g0021 a0001c0005t0002g0164 a0002c0004t0001g0063 a0002c0006t0004g0023 a0002c0006t0004g0031	10	160	0.0625	-33	c.385 others(52): Show c.385+41940_385+41972delCTCTCTCTTTCTCTCTTTCTTTCTTG TCTCTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL2A1_chr12_47967967_48009476	47971821	TTATTATA others(26): Show TTATTATATTGTATAATAATATATGTATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA18978.hp1 HG02132.hp1 NA18978.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0015 a0002c0001 a0004c0015	a0002c0001t0001 a0004c0015t0006 a0002c0001t0001 a0004c0015t0006	a0002c0001t0001g0122 a0004c0015t0006g0258 a0002c0001t0001g0122 a0004c0015t0006g0258	2	412	0.0049	-33	c.15 others(44): Show c.1553_*1585delTAATATATACATATATTATTATACAATATAATA	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1145		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110252468	TTATATGT others(26): Show TTATATGTATTATATATACGTATAATTATACGTA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0001 a0004c0071t0001	a0004c0071t0001g0084 a0004c0071t0001g0084	1	311	0.0032	-33	c.85- others(48): Show c.85-9767_85-9735delTACGTATAATTATACGTATATATAATACAT ATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252788	AGTATGTA others(26): Show AGTATGTATTACATATACAGATAACTATAAGTAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02886.hp2 others(4): Show HG01884.hp2 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0018 others(3): Show a0002c0002 a0002c0004 a0002c0018 a0002c0023 a0002c0030 a0002c0048	a0002c0002t0001 a0002c0004t0001 a0002c0018t0001 others(3): Show a0002c0002t0001 a0002c0004t0001 a0002c0018t0001 a0002c0023t0003 a0002c0030t0008 a0002c0048t0001	a0002c0002t0001g0198 a0002c0004t0001g0250 a0002c0018t0001g0222 others(4): Show a0002c0002t0001g0198 a0002c0004t0001g0250 a0002c0018t0001g0222 a0002c0023t0003g0237 a0002c0030t0008g0187 a0002c0048t0001g0184 a0002c0048t0001g0185	7	188	0.0372	-33	c.85- others(50): Show c.85-10087_85-10055delGTACTTATAGTTATCTGTATATGTAATA CATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355385	GGGGGGAG others(26): Show GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0131 a0002c0019t0006g0131	1	267	0.0037	-33	c.100 others(50): Show c.100-2074_100-2042delCACTAGCTCACCTGTGTGTGTGGGGGAG GGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355431	TACTAGCT others(26): Show TACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18962.hp1 HG02083.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0003 a0001c0016t0007 a0001c0005t0003 a0001c0016t0007	a0001c0005t0003g0080 a0001c0016t0007g0159 a0001c0005t0003g0080 a0001c0016t0007g0159	2	343	0.0058	-33	c.100 others(50): Show c.100-1942_100-1910delCACTAGCTCACCTGTGTGTGTGGGGGAG GGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355712	TGGGGAGG others(26): Show TGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0016 a0016	a0016c0104 a0016c0104	a0016c0104t0006 a0016c0104t0006	a0016c0104t0006g0085 a0016c0104t0006g0085	1	195	0.0051	-33	c.100 others(50): Show c.100-1728_100-1696delTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355759	CTAGCTCA others(26): Show CTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0159 a0001c0016t0007g0159	1	321	0.0031	-33	c.100 others(50): Show c.100-1712_100-1680delTAGCTCACCTGTGTGTGGGGGTGGAGGG CTGTA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355810	TGGGGAGG others(26): Show TGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG01517.hp1 others(9): Show HG00642.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02129.hp1 HG02293.hp2 HG03239.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG06807.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0016	a0001c0001 a0001c0003 a0003c0007 others(5): Show a0001c0001 a0001c0003 a0003c0007 a0003c0018 a0003c0069 a0003c0095 a0004c0009 a0016c0104	a0001c0001t0002 a0001c0001t0006 a0001c0003t0049 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0049 a0003c0007t0005 a0003c0007t0030 a0003c0007t0035 a0003c0018t0006 a0003c0069t0009 a0003c0095t0003 a0004c0009t0002 a0016c0104t0006	a0001c0001t0002g0307 a0001c0001t0006g0074 a0001c0001t0006g0075 others(9): Show a0001c0001t0002g0307 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0003t0049g0274 a0003c0007t0005g0259 a0003c0007t0030g0352 a0003c0007t0035g0025 a0003c0018t0006g0121 a0003c0069t0009g0008 a0003c0095t0003g0082 a0004c0009t0002g0325 a0016c0104t0006g0085	12	254	0.0472	-33	c.100 others(50): Show c.100-1650_100-1618delCACTAGCTCACCTGTGTGTGGGGGGGAG GGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355822	CACTAGCT others(26): Show CACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00609.hp2 others(77): Show HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01346.hp1 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(43): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0037 a0001c0045 a0001c0052 a0001c0098 a0001c0119 a0002c0006 a0002c0013 a0002c0017 a0002c0050 a0002c0054 a0002c0056 a0002c0063 a0002c0065 a0002c0066 a0002c0090 a0003c0007 a0003c0040 a0003c0070 a0003c0094 a0003c0118 a0004c0009 a0004c0030 a0004c0058 a0004c0084 a0004c0085 a0006c0033 a0007c0031 a0007c0059 a0007c0060 a0008c0023 a0010c0042 a0012c0034 a0015c0096 a0017c0080	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0029 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0004 a0001c0004t0006 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0004 a0001c0008t0007 a0001c0011t0022 a0001c0014t0001 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0016t0007 a0001c0022t0014 a0001c0024t0002 a0001c0024t0003 a0001c0037t0005 a0001c0045t0003 a0001c0052t0003 a0001c0098t0005 a0001c0119t0032 a0002c0006t0006 a0002c0013t0006 a0002c0017t0002 a0002c0050t0002 a0002c0054t0045 a0002c0056t0004 a0002c0063t0007 a0002c0065t0014 a0002c0066t0007 a0002c0090t0008 a0003c0007t0001 a0003c0007t0038 a0003c0040t0002 a0003c0070t0005 a0003c0094t0025 a0003c0118t0036 a0004c0009t0001 a0004c0030t0001 a0004c0058t0001 a0004c0084t0005 a0004c0085t0001 a0006c0033t0012 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0008c0023t0001 a0008c0023t0002 a0010c0042t0002 a0012c0034t0001 a0015c0096t0010 a0017c0080t0003	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0363 others(77): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0363 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0004g0290 a0001c0002t0001g0101 a0001c0002t0001g0243 a0001c0002t0002g0308 a0001c0002t0029g0204 a0001c0003t0002g0342 a0001c0003t0002g0353 a0001c0003t0003g0057 a0001c0003t0017g0178 a0001c0004t0004g0291 a0001c0004t0006g0053 a0001c0004t0040g0050 a0001c0005t0001g0182 a0001c0005t0001g0249 a0001c0005t0002g0322 a0001c0005t0002g0341 a0001c0005t0003g0052 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0008t0001g0202 a0001c0008t0004g0285 a0001c0008t0007g0214 a0001c0011t0022g0358 a0001c0014t0001g0194 a0001c0014t0005g0240 a0001c0015t0001g0198 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0022t0014g0037 a0001c0024t0002g0345 a0001c0024t0003g0060 a0001c0037t0005g0185 a0001c0045t0003g0021 a0001c0052t0003g0141 a0001c0098t0005g0237 a0001c0119t0032g0005 a0002c0006t0006g0070 a0002c0013t0006g0118 a0002c0017t0002g0335 a0002c0017t0002g0370 a0002c0050t0002g0318 a0002c0054t0045g0233 a0002c0056t0004g0266 a0002c0063t0007g0147 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0090t0008g0041 a0003c0007t0001g0031 a0003c0007t0038g0019 a0003c0040t0002g0261 a0003c0070t0005g0226 a0003c0094t0025g0175 a0003c0118t0036g0139 a0004c0009t0001g0244 a0004c0030t0001g0113 a0004c0058t0001g0183 a0004c0084t0005g0253 a0004c0085t0001g0200 a0006c0033t0012g0336 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0008c0023t0001g0262 a0008c0023t0002g0313 a0010c0042t0002g0314 a0010c0042t0002g0315 a0012c0034t0001g0196 a0012c0034t0001g0197 a0015c0096t0010g0209 a0017c0080t0003g0056	80	346	0.2312	-33	c.100 others(50): Show c.100-1632_100-1600delTGGGGGGGAGGGCTGTACTAGCTCACCT GTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134710594	GCCCATTT others(26): Show GCCCATTTGTTGGGTGCAGTGGTGGGGGAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(148): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(43): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0024 a0001c0027 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0044 a0001c0045 a0001c0049 a0001c0051 a0001c0052 a0001c0056 a0001c0057 a0001c0058 a0001c0061 a0002c0013 a0002c0017 a0003c0038 a0003c0059 a0004c0029 a0004c0067 a0005c0034 a0006c0062 a0006c0063 a0007c0037 a0008c0035 a0009c0030 a0010c0066 a0012c0054 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(96): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0016 a0001c0003t0021 a0001c0003t0025 a0001c0003t0032 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0030 a0001c0004t0033 a0001c0005t0003 a0001c0005t0014 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0004 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0001 a0001c0010t0003 a0001c0011t0007 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0018t0008 a0001c0019t0022 a0001c0022t0001 a0001c0022t0002 a0001c0024t0001 a0001c0027t0001 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0044t0057 a0001c0045t0004 a0001c0049t0003 a0001c0051t0007 a0001c0052t0020 a0001c0056t0001 a0001c0057t0002 a0001c0058t0002 a0001c0061t0013 a0002c0013t0003 a0002c0017t0003 a0003c0038t0001 a0003c0059t0040 a0004c0029t0002 a0004c0029t0005 a0004c0067t0001 a0005c0034t0009 a0006c0062t0011 a0006c0063t0002 a0007c0037t0001 a0008c0035t0012 a0009c0030t0001 a0010c0066t0001 a0012c0054t0002 a0013c0055t0007	a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0002g0079 others(148): Show a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0245 a0001c0001t0004g0102 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0006g0129 a0001c0001t0008g0260 a0001c0001t0009g0109 a0001c0001t0009g0233 a0001c0001t0010g0098 a0001c0001t0012g0242 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0037g0054 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0002g0030 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0050 a0001c0002t0005g0060 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0011g0093 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0190 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0188 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0007g0005 a0001c0003t0010g0040 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0032g0006 a0001c0003t0036g0052 a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0053 a0001c0004t0002g0172 a0001c0004t0002g0228 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0005t0003g0265 a0001c0005t0014g0258 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0004g0028 a0001c0008t0001g0116 a0001c0008t0001g0149 a0001c0008t0002g0092 a0001c0008t0003g0017 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0001g0003 a0001c0010t0001g0004 a0001c0010t0003g0068 a0001c0011t0007g0027 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0022t0001g0181 a0001c0022t0002g0159 a0001c0024t0001g0207 a0001c0027t0001g0130 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0192 a0001c0036t0035g0045 a0001c0044t0057g0042 a0001c0045t0004g0104 a0001c0049t0003g0183 a0001c0051t0007g0203 a0001c0052t0020g0199 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0061t0013g0178 a0002c0013t0003g0061 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0003c0038t0001g0136 a0003c0059t0040g0194 a0004c0029t0002g0097 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0034t0009g0195 a0006c0062t0011g0026 a0006c0063t0002g0072 a0007c0037t0001g0058 a0008c0035t0012g0008 a0009c0030t0001g0137 a0010c0066t0001g0235 a0012c0054t0002g0141 a0013c0055t0007g0257	151	270	0.5593	-33	c.654 others(50): Show c.654+9292_654+9324delGGCCCCATTTGTTGGGTGCAGTGGTGGG GGAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134710760	ATCTGTGG others(26): Show ATCTGTGGGGTGCAGTGGTGGGGGAGGGGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG02300.hp2 HG01099.hp1 HG01106.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 a0001c0001t0001 a0001c0001t0002 a0001c0003t0049	a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158	3	270	0.0111	-33	c.654 others(50): Show c.654+9433_654+9465delGGGGTGCAGTGGTGGGGGAGGGGCCCCG TCTGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134710891	TTGTTGGG others(26): Show TTGTTGGGTGCAGTGGTGGGGGAGGGGCCCCGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(47): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02109.hp2 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0023 a0001c0046 a0001c0047 a0001c0064 a0001c0065 a0002c0013 a0003c0020 a0003c0021 a0011c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0031 a0001c0001t0059 a0001c0002t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0028 a0001c0003t0044 a0001c0004t0018 a0001c0005t0045 a0001c0009t0001 a0001c0010t0026 a0001c0011t0001 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0023t0002 a0001c0046t0001 a0001c0047t0003 a0001c0064t0019 a0001c0065t0003 a0002c0013t0003 a0002c0013t0021 a0003c0020t0001 a0003c0021t0001 a0011c0043t0043	a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0001g0212 others(47): Show a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0115 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0007g0215 a0001c0001t0020g0196 a0001c0001t0031g0075 a0001c0001t0059g0095 a0001c0002t0001g0254 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0015g0189 a0001c0003t0028g0135 a0001c0003t0044g0185 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0045g0267 a0001c0009t0001g0106 a0001c0010t0026g0049 a0001c0011t0001g0193 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0085 a0001c0023t0002g0113 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0064t0019g0010 a0001c0065t0003g0009 a0002c0013t0003g0076 a0002c0013t0021g0071 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0011c0043t0043g0037	50	265	0.1887	-33	c.654 others(50): Show c.654+9624_654+9656delCTGTTGGGTGCAGTGGTGGGGGAGGGGC CCCGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45990038	CCCCCGGG others(26): Show CCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	126	0.0079	-33	c.931 others(48): Show c.931-215_931-183delGGGCGGTTACCCTCTGCGGAGCCGGGGGTC CCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	11/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006398	GGTGGGCG others(26): Show GGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0007 a0001c0022t0007	a0001c0022t0007g0046 a0001c0022t0007g0046	1	126	0.0079	-33	c.23 others(44): Show c.2386_*2418delGTGGGCGGGGCCCGGGGCAGACGCAGTGAGGCA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1351		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02132.hp2 HG01884.hp1 HG02132.hp2	a0010 a0037 a0010 a0037	a0010c0088 a0037c0050 a0010c0088 a0037c0050	a0010c0088t0002 a0037c0050t0001 a0010c0088t0002 a0037c0050t0001	a0010c0088t0002g0171 a0037c0050t0001g0274 a0010c0088t0002g0171 a0037c0050t0001g0274	2	42	0.0476	-33	c.766 others(50): Show c.7668+803_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130408645	CTAATAAA others(26): Show CTAATAAAAACTTGCTGGTTTTGTGGCTCAAGGG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0074 a0074	a0074c0091 a0074c0091	a0074c0091t0015 a0074c0091t0015	a0074c0091t0015g0035 a0074c0091t0015g0035	1	290	0.0034	-33	c.448 others(50): Show c.4480-680_4480-648delTAATAAAAACTTGCTGGTTTTGTGGCTC AAGGG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	17/40			chr3	TogoVar
COL6A5_chr3_130340672_130489846	130474983	GGCAACAG others(26): Show GGCAACAGAGCAAGACCATGTCTCCAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0096 a0010c0009t0002g0096	1	290	0.0034	-33	c.781 others(52): Show c.7819+3058_7819+3090delGCAACAGAGCAAGACCATGTCTCCAA AAAAAAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40			chr3	TogoVar
COX14_chr12_50107236_50125453	50122933	CTCGAACT others(26): Show CTCGAACTCCTGGCCTCAAGTGATTCACCCGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	416	0.0024	-33	c.27 others(44): Show c.2717_*2749delTCGAACTCCTGGCCTCAAGTGATTCACCCGCTT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding		2481		chr12	TogoVar
COX19_chr7_959852_980549	964020	TCCCCCCA others(26): Show TCCCCCCAGAGCCTGCCGAGGCGGGAAACGGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03654.hp1 HG02155.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	385	0.0052	-33	c.53 others(44): Show c.5325_*5357delGAACCGTTTCCCGCCTCGGCAGGCTCTGGGGGG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		831		chr7	TogoVar
COX19_chr7_959852_980549	964092	AAGAGCCT others(26): Show AAGAGCCTGCCGAGGCGGGAAACGGTTCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02257.hp2 others(5): Show HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02976.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0037 a0001c0001t0077 a0001c0001t0015 a0001c0001t0037 a0001c0001t0077	a0001c0001t0015g0033 a0001c0001t0015g0034 a0001c0001t0015g0070 others(3): Show a0001c0001t0015g0033 a0001c0001t0015g0034 a0001c0001t0015g0070 a0001c0001t0037g0069 a0001c0001t0037g0071 a0001c0001t0077g0072	8	395	0.0203	-33	c.52 others(44): Show c.5253_*5285delGGGGGGGAACCGTTTCCCGCCTCGGCAGGCTCT	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		759		chr7	TogoVar
CPA5_chr7_130339816_130373730	130349718	ACAAAAAT others(26): Show ACAAAAATTAAAAATTACAAAAAAACCTGTATCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(233): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0017 a0001c0026 a0001c0030 a0001c0032 a0002c0008 a0002c0009 a0002c0025 a0003c0013 a0003c0016 a0003c0027 a0004c0012 a0004c0020 a0005c0011 a0006c0018 a0007c0031 a0008c0019 a0009c0024	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(21): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0010t0001 a0001c0017t0001 a0001c0026t0001 a0001c0030t0001 a0001c0032t0001 a0002c0008t0001 a0002c0009t0003 a0002c0025t0001 a0003c0013t0003 a0003c0016t0001 a0003c0027t0001 a0004c0012t0004 a0004c0020t0003 a0005c0011t0001 a0006c0018t0001 a0007c0031t0001 a0008c0019t0003 a0009c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0005g0134 a0001c0001t0008g0160 a0001c0003t0002g0045 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0003g0010 a0001c0003t0003g0015 a0001c0003t0003g0025 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0045 a0001c0003t0003g0100 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0104 a0001c0003t0003g0107 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0118 a0001c0003t0003g0129 a0001c0004t0001g0180 a0001c0010t0001g0012 a0001c0017t0001g0154 a0001c0017t0001g0156 a0001c0026t0001g0053 a0001c0030t0001g0181 a0001c0032t0001g0003 a0002c0008t0001g0006 a0002c0008t0001g0026 a0002c0008t0001g0153 a0002c0009t0003g0024 a0002c0009t0003g0108 a0002c0009t0003g0114 a0002c0025t0001g0149 a0003c0013t0003g0106 a0003c0013t0003g0111 a0003c0016t0001g0052 a0003c0027t0001g0155 a0004c0012t0004g0062 a0004c0012t0004g0218 a0004c0020t0003g0101 a0005c0011t0001g0058 a0005c0011t0001g0189 a0006c0018t0001g0055 a0007c0031t0001g0167 a0008c0019t0003g0105 a0009c0024t0001g0026	236	410	0.5756	-33	c.199 others(48): Show c.199-252_199-220delAATTAAAAATTACAAAAAAACCTGTATCCC AAA	CPA5	ENSG00000158525.16	transcript	ENST00000474905.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67475801	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCCTTTCTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	135	0.0074	-33	c.838 others(50): Show c.838+7934_838+7966delAAAGAAAGAAAAGAAAGGAAAGAAAGAA AGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475805	CTTTCTTT others(26): Show CTTTCTTTCTTTCCTTTCTTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02897.hp2 HG02970.hp1 others(2): Show HG00423.hp1 HG02897.hp2 HG02970.hp1 NA18962.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0070 a0002c0002t0001g0051 a0002c0002t0001g0101	5	122	0.0410	-33	c.838 others(50): Show c.838+7930_838+7962delAAAGAAAGAAAGAAAAGAAAGGAAAGAA AGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607154	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0124 a0010c0008t0001g0124	1	133	0.0075	-33	c.192 others(52): Show c.192+16989_192+17021delAGAAGAAGAAGAAGAAGAGGAAGAAG AAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03239.hp1 HG02280.hp2 HG03239.hp1	a0005 a0006 a0005 a0006	a0005c0004 a0006c0006 a0005c0004 a0006c0006	a0005c0004t0001 a0006c0006t0001 a0005c0004t0001 a0006c0006t0001	a0005c0004t0001g0034 a0006c0006t0001g0052 a0005c0004t0001g0034 a0006c0006t0001g0052	2	40	0.0500	-33	c.192 others(52): Show c.192+16974_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01106.hp2 others(6): Show HG00558.hp2 HG01106.hp1 HG01106.hp2 HG02622.hp1 HG02622.hp2 HG03710.hp1 NA18522.hp1 NA19075.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0005c0011 a0006c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0005c0011t0001 a0006c0010t0002	a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0111 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0111 a0002c0002t0001g0080 a0002c0002t0002g0069 a0002c0002t0002g0133 a0002c0004t0002g0044 a0005c0011t0001g0052 a0006c0010t0002g0099	9	28	0.3214	-33	c.540 others(48): Show c.540+692_540+724delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX4_chr18_59290402_59323649	59300817	CCTCTGAC others(26): Show CCTCTGACCTAGCAATGACTCCTACCTTCACCCA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19055.hp1 NA19086.hp1 HG00544.hp1 NA19055.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0058 a0001c0001t0017g0256 a0001c0001t0017g0058 a0001c0001t0017g0256	3	416	0.0072	-33	c.256 others(50): Show c.256-3925_256-3893delTGGGTGAAGGTAGGAGTCATTGCTAGGT CAGAG	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPNE7_chr16_89570758_89602246	89574362	GGGGAAAA others(26): Show GGGGAAAACTGTCCCAGGGCTGCTGGAACCGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp2 others(76): Show HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18964.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0015 a0002c0003 a0002c0004 a0003c0006 a0004c0020 a0007c0026	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0005t0002 a0001c0007t0006 a0001c0015t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0007 a0002c0004t0002 a0002c0004t0014 a0003c0006t0003 a0004c0020t0001 a0007c0026t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 others(73): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0001g0311 a0001c0001t0008g0050 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0307 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0148 a0001c0002t0003g0298 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0009g0318 a0001c0002t0010g0210 a0001c0005t0002g0042 a0001c0005t0002g0043 a0001c0005t0002g0076 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0306 a0001c0005t0002g0308 a0001c0005t0002g0315 a0001c0007t0006g0252 a0001c0015t0001g0322 a0002c0003t0002g0310 a0002c0003t0004g0301 a0002c0003t0007g0290 a0002c0004t0002g0002 a0002c0004t0002g0020 a0002c0004t0002g0271 a0002c0004t0002g0293 a0002c0004t0002g0296 a0002c0004t0002g0297 a0002c0004t0002g0299 a0002c0004t0002g0302 a0002c0004t0002g0303 a0002c0004t0002g0304 a0002c0004t0002g0305 a0002c0004t0002g0309 a0002c0004t0002g0316 a0002c0004t0002g0324 a0002c0004t0014g0300 a0003c0006t0003g0334 a0004c0020t0001g0332 a0007c0026t0001g0021	79	346	0.2283	-33	c.-15 others(44): Show c.-1535_-1503delGGGAAAACTGTCCCAGGGCTGCTGGAACCGAGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1395		chr16	TogoVar
CPQ_chr8_96640242_97148501	96777744	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	85	0.0118	-33	c.-34 others(50): Show c.-34-7118_-34-7086delATATATATATATATATTTTTTTTTTTTT TTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRABP1_chr15_78335353_78353225	78351505	AATCATCA others(26): Show AATCATCAGCCCTAAGACATTTGTGTGTATACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	458	0.0022	-33	c.35 others(44): Show c.3529_*3561delATCATCAGCCCTAAGACATTTGTGTGTATACAC	CRABP1	ENSG00000166426.8	transcript	ENST00000299529.7	protein_coding		3281		chr15	TogoVar
CRB1_chr1_197263252_197483455	197453898	ATATTATT others(26): Show ATATTATTAATATATATTATTGATATTATTATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	184	0.0054	-33	c.400 others(54): Show c.4005+11612_4005+11644delTTAATATATATTATTGATATTATT ATATTATTA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197453904	TTAATATA others(26): Show TTAATATATATTATTGATATTATTATATTATTAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18955.hp2 NA18960.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19083.hp1 NA19083.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0002c0003 a0004c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0002c0003t0001 a0004c0008t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0002g0051 a0001c0001t0002g0141 a0001c0001t0004g0162 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0009t0001g0003 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0004c0008t0001g0059 a0007c0007t0001g0095	121	162	0.7469	-33	c.400 others(54): Show c.4005+11678_4005+11710delATAATATATATTATTGATATTATT ATATTATTA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREBBP_chr16_3720054_3885713	3849411	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	284	0.0035	-33	c.798 others(48): Show c.798+853_798+885delACACACACACACACACACACACACACACAC ACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849421	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0117 a0001c0001t0033g0117	1	283	0.0035	-33	c.798 others(48): Show c.798+843_798+875delACACACACACACACACACACACACACACAC ACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849437	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	270	0.0037	-33	c.798 others(48): Show c.798+827_798+859delACACACACACACACACACACACACACACAC ACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBRF_chr5_173051352_173144284	173132419	TCCCCTCC others(26): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	290	0.0034	-33	c.180 others(52): Show c.1805-1186_1805-1154delTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRELD2_chr22_49913634_49932537	49923558	CACTGCTC others(26): Show CACTGCTCGTGCCCCCCCAGCGCCCCCGCAACGT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	322	0.0031	-33	c.772 others(48): Show c.772+242_772+274delACTGCTCGTGCCCCCCCAGCGCCCCCGCAA CGT	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	7/9			chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926655	TGGGTCCC others(26): Show TGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02895.hp2 others(2): Show HG02055.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0129 a0001c0007t0002g0130 a0001c0007t0002g0131 others(2): Show a0001c0007t0002g0129 a0001c0007t0002g0130 a0001c0007t0002g0131 a0001c0007t0002g0132 a0001c0007t0002g0133	5	284	0.0176	-33	c.101 others(50): Show c.1010-571_1010-539delACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRHR2_chr7_30646942_30687456	30671810	GATGATGA others(26): Show GATGATGATGATGATGATGATGATGATGATGATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	2	398	0.0050	-33	c.230 others(50): Show c.230-4530_230-4498delTATCATCATCATCATCATCATCATCATC ATCAT	CRHR2	ENSG00000106113.19	transcript	ENST00000471646.6	protein_coding	2/11			chr7	TogoVar
CRNN_chr1_152404243_152419263	152416413	AACTTAAG others(26): Show AACTTAAGTAAACTACCTAAGGTCACATAGCTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	390	0.0026	-33	c.-22 others(44): Show c.-2246_-2214delCTAGCTATGTGACCTTAGGTAGTTTACTTAAGT	CRNN	ENSG00000143536.7	transcript	ENST00000271835.3	protein_coding		2151		chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924382	ACACTGAC others(26): Show ACACTGACCCAGTCCCCACACTAACCCGGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02922.hp2 others(2): Show HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp2	a0014 a0043 a0014 a0043	a0014c0014 a0043c0036 a0014c0014 a0043c0036	a0014c0014t0001 a0043c0036t0001 a0014c0014t0001 a0043c0036t0001	a0014c0014t0001g0019 a0014c0014t0001g0023 a0014c0014t0001g0152 others(2): Show a0014c0014t0001g0019 a0014c0014t0001g0023 a0014c0014t0001g0152 a0014c0014t0001g0153 a0043c0036t0001g0234	5	348	0.0144	-33	c.489 others(50): Show c.489-1341_489-1309delCACTGACCCAGTCCCCACACTAACCCGG CCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRTAM_chr11_122833500_122877643	122861400	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0198 a0002c0002t0006g0198	1	400	0.0025	-33	c.653 others(50): Show c.653-1062_653-1030delATATATATATATATATATATTTTTTTTT TTTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407781	ACATGTGG others(26): Show ACATGTGGACATTTGTGTATATGAATTGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG03486.hp2 HG02630.hp2 HG03471.hp2 HG03486.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0020 a0002c0003 a0011c0020	a0002c0003t0020 a0011c0020t0030 a0002c0003t0020 a0011c0020t0030	a0002c0003t0020g0078 a0002c0003t0020g0101 a0011c0020t0030g0182 a0002c0003t0020g0078 a0002c0003t0020g0101 a0011c0020t0030g0182	3	168	0.0179	-33	c.130 others(50): Show c.1309+799_1309+831delCGCACACAATTCATATACACAAATGTCC ACATG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083632	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp2 HG02280.hp1 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0053 a0006c0067 a0002c0053 a0006c0067	a0002c0053t0022 a0006c0067t0059 a0002c0053t0022 a0006c0067t0059	a0002c0053t0022g0041 a0006c0067t0059g0079 a0002c0053t0022g0041 a0006c0067t0059g0079	2	125	0.0160	-33	c.747 others(52): Show c.7474+3432_7474+3464delAAAAAAAAAAAAAAAAATATATATAT ATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar

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