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
CDK16_chrX_47213681_47234997	47233763	CTGAGGGG others(46): Show CTGAGGGGCGTGCTCTGAGGCCGAGGGACGACAGTGGAGGGGAGGTGGTG CCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(132): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0005 others(1): Show a0001c0001 a0002c0003 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0002c0003t0001 a0003c0005t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0003g0008 a0001c0001t0003g0060 a0001c0001t0016g0024 a0001c0001t0017g0001 a0002c0003t0001g0001 a0003c0005t0001g0001 a0004c0004t0001g0056	135	310	0.4355	-53	c.49 others(64): Show c.4996_*5048delTGAGGGGCGTGCTCTGAGGCCGAGGGACGACAGT GGAGGGGAGGTGGTGCCTA	CDK16	ENSG00000102225.17	transcript	ENST00000357227.9	protein_coding		3767		chrX	TogoVar
CECR2_chr22_17364460_17563151	17419517	GAAGAAGA others(46): Show GAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGA AGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG06807.hp2 HG02145.hp1 HG02717.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0187 a0001c0001t0002g0050 a0001c0001t0014g0265 a0001c0001t0001g0187 a0001c0001t0002g0050 a0001c0001t0014g0265	3	322	0.0093	-53	c.126 others(72): Show c.126+49622_126+49674delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGAAGAAGAAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPM_chr22_41933737_41952152	41939220	AGTGAGAT others(46): Show AGTGAGATAGAATGCTGGCCCTGCTCCCTTACCCAGAGCAGCTGCAGGGG CTGC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	256	0.0039	-53	c.403 others(66): Show c.403-77_403-25delGCAGCCCCTGCAGCTGCTCTGGGTAAGGGAGC AGGGCCAGCATTCTATCTCAC	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CEP104_chr1_3807086_3862211	3834252	CATCTTCC others(46): Show CATCTTCCCTTCATACCGAGTATCTAACATCCCTGCTTCAATGGGTAAGC CCAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(140): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0015 a0018	a0001c0006 a0002c0002 a0002c0005 others(4): Show a0001c0006 a0002c0002 a0002c0005 a0002c0012 a0011c0013 a0015c0010 a0018c0011	a0001c0006t0006 a0001c0006t0021 a0002c0002t0001 others(10): Show a0001c0006t0006 a0001c0006t0021 a0002c0002t0001 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0005t0001 a0002c0012t0001 a0011c0013t0001 a0015c0010t0006 a0018c0011t0001	a0001c0006t0006g0021 a0001c0006t0006g0125 a0001c0006t0006g0127 others(111): Show a0001c0006t0006g0021 a0001c0006t0006g0125 a0001c0006t0006g0127 a0001c0006t0006g0128 a0001c0006t0006g0129 a0001c0006t0006g0130 a0001c0006t0006g0131 a0001c0006t0006g0132 a0001c0006t0021g0118 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0011g0133 a0002c0002t0011g0134 a0002c0002t0011g0135 a0002c0002t0022g0085 a0002c0002t0023g0092 a0002c0002t0024g0116 a0002c0002t0025g0077 a0002c0005t0001g0004 a0002c0005t0001g0018 a0002c0005t0001g0034 a0002c0005t0001g0035 a0002c0005t0001g0039 a0002c0005t0001g0041 a0002c0005t0001g0046 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0108 a0002c0005t0001g0112 a0002c0012t0001g0044 a0011c0013t0001g0056 a0015c0010t0006g0126 a0018c0011t0001g0050	143	380	0.3763	-53	c.148 others(70): Show c.1486-270_1486-218delTTGGGCTTACCCATTGAAGCAGGGATGT TAGATACTCGGTATGAAGGGAAGAT	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	11/21			chr1	TogoVar
CEP72_chr5_607340_658553	649451	GGACTGTG others(46): Show GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAG GTGT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0005 a0004c0004t0003g0005	2	90	0.0222	-53	c.177 others(72): Show c.1778+1563_1778+1615delACTGTGAGGTGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80800445	GATATATT others(46): Show GATATATTAATATAATATATAATATATAATATATTATATAATATATAATA TATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp1 others(11): Show HG00408.hp2 HG00642.hp1 HG00738.hp1 HG02040.hp1 HG02071.hp2 HG02523.hp2 HG03017.hp2 HG03130.hp1 NA18963.hp1 NA18964.hp1 NA18984.hp1 NA19060.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0030 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0045	14	94	0.1489	-53	c.334 others(72): Show c.334-69539_334-69487delATATAATATATAATATATAATATATT ATATAATATATAATATATAATATATTA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800497	TAATATAT others(46): Show TAATATATTATATAATATATAATATATAATATATTATATAATATATAATA TATC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	83	0.0120	-53	c.334 others(72): Show c.334-69476_334-69424delAATATATAATATATTATATAATATAT AATATATCAATATATTATATAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113396846	TTATATCA others(46): Show TTATATCACTTTCTGGTAACCTCTATCCATTCCAGCATAGTTCCTTATAA CCAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0329 a0001c0001t0009g0329	1	346	0.0029	-53	c.157 others(70): Show c.1570-172_1570-120delTTGGTTATAAGGAACTATGCTGGAATGG ATAGAGGTTACCAGAAAGTGATATA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	13/34			chr3	TogoVar
CFAP97D2_chr13_114174257_114228085	114176874	ATGGGTGG others(46): Show ATGGGTGGACAGCATGGGTGACAGCTGTGGGTGGACAGCTGTGGGTGACA GCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00733.hp1 others(56): Show HG00408.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp2 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0029 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0007g0048 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0004t0001g0060 a0002c0003t0001g0070	59	398	0.1482	-53	c.-24 others(64): Show c.-2456_-2404delTGGGTGGACAGCATGGGTGACAGCTGTGGGTGGA CAGCTGTGGGTGACAGCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2382		chr13	TogoVar
CHCHD6_chr3_126699240_126965420	126863048	CCTCCTCC others(46): Show CCTCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATC ACCA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	214	0.0047	-53	c.495 others(72): Show c.495+10320_495+10372delTCCTCCTCCTCCTCCACCATCATCAC CTCCTCCTCCTCCTCCACCATCACCAC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863053	TCCTCCTC others(46): Show TCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCACCAC CTCC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	214	0.0047	-53	c.495 others(72): Show c.495+10324_495+10376delCCTCCTCCTCCACCATCATCACCTCC TCCTCCTCCTCCACCATCACCACCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863057	CCTCCTCC others(46): Show CCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCACCACCTCC TCCT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	214	0.0047	-53	c.495 others(72): Show c.495+10329_495+10381delTCCTCCACCATCATCACCTCCTCCTC CTCCTCCACCATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863101	ACCTCCTC others(46): Show ACCTCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCAT CACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	133	0.0075	-53	c.495 others(72): Show c.495+10372_495+10424delCCTCCTCCTCCTCCTCCACCATCATC ACCTCCTCCTCCTCCTCCACCATCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHFR_chr12_132827356_132892605	132874601	AGAACAGG others(46): Show AGAACAGGCGGGACTGCCCAGGACCAGCACCCAGCGCGGGGAAGCCAGGC CCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(82): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp1 NA18946.hp1 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18973.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp2 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0003 others(1): Show a0001c0001 a0001c0010 a0003c0003 a0003c0008	a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 others(27): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0071 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0010t0033 a0003c0003t0001 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0062 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0008t0019	a0001c0001t0006g0137 a0001c0001t0006g0139 a0001c0001t0006g0140 others(77): Show a0001c0001t0006g0137 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0154 a0001c0001t0012g0002 a0001c0001t0012g0125 a0001c0001t0012g0131 a0001c0001t0012g0152 a0001c0001t0012g0170 a0001c0001t0033g0134 a0001c0001t0033g0153 a0001c0001t0049g0135 a0001c0001t0049g0141 a0001c0001t0050g0148 a0001c0001t0050g0155 a0001c0001t0051g0171 a0001c0001t0051g0172 a0001c0001t0052g0127 a0001c0001t0052g0150 a0001c0001t0071g0345 a0001c0001t0141g0126 a0001c0001t0142g0132 a0001c0001t0143g0309 a0001c0001t0144g0136 a0001c0001t0145g0138 a0001c0001t0146g0129 a0001c0001t0147g0128 a0001c0001t0148g0130 a0001c0001t0149g0146 a0001c0001t0150g0157 a0001c0001t0151g0156 a0001c0010t0033g0133 a0003c0003t0001g0007 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0330 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0001g0346 a0003c0003t0001g0347 a0003c0003t0001g0348 a0003c0003t0001g0349 a0003c0003t0019g0339 a0003c0003t0019g0344 a0003c0003t0020g0317 a0003c0003t0020g0318 a0003c0003t0020g0320 a0003c0003t0020g0321 a0003c0003t0037g0340 a0003c0003t0037g0341 a0003c0003t0062g0338 a0003c0003t0065g0331 a0003c0003t0066g0329 a0003c0003t0067g0319 a0003c0003t0068g0316 a0003c0008t0019g0342 a0003c0008t0019g0343	85	376	0.2261	-53	c.234 others(70): Show c.234-2260_234-2208delCGGGGCCTGGCTTCCCCGCGCTGGGTGC TGGTCCTGGGCAGTCCCGCCTGTTC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CHFR_chr12_132827356_132892605	132874901	GCGGGGAA others(46): Show GCGGGGAAGCCAGGCCCTGATGTAGGCGGGAAAGCCCAGGACCAGCACCC AGCA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0272 a0001c0001t0102g0272	1	376	0.0027	-53	c.234 others(70): Show c.234-2560_234-2508delTGCTGGGTGCTGGTCCTGGGCTTTCCCG CCTACATCAGGGCCTGGCTTCCCCG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CHRM3_chr1_239381568_239920450	239414003	GTTCCTGA others(46): Show GTTCCTGATGGAAAGAATTTGAGTTTTAGACTTCGCTAGGCCCTTGTCGT TTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	114	0.0088	-53	c.-52 others(74): Show c.-521+26777_-521+26829delTTCCTGATGGAAAGAATTTGAGTT TTAGACTTCGCTAGGCCCTTGTCGTTTGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6			chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732335	GTATACCT others(46): Show GTATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAGAT AAGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0034 a0001c0001t0021 a0001c0001t0034	a0001c0001t0021g0019 a0001c0001t0034g0026 a0001c0001t0021g0019 a0001c0001t0034g0026	2	53	0.0377	-53	c.-14 others(74): Show c.-147+54048_-147+54100delTATACCTAATATCTCACTTAGATA AGTATACCTAATATCTCACTTAGATAAGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6			chr1	TogoVar
CIDEA_chr18_12249361_12282595	12280885	TGGCCAGC others(46): Show TGGCCAGCACCTTTCTCTACCATCACCTCCACGGGGACAGCTATTCCTTG CTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	446	0.0022	-53	c.36 others(64): Show c.3616_*3668delGGCCAGCACCTTTCTCTACCATCACCTCCACGGG GACAGCTATTCCTTGCTAG	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		3291		chr18	TogoVar
CLCA4_chr1_86542078_86585754	86553936	AAAAAAAA others(46): Show AAAAAAAAAGTTTGTGTGTCAATGTATGACCCATAGTGTCTTCTTTTCTT TTCT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	332	0.0030	-53	c.160 others(70): Show c.160-5995_160-5943delAAAAAAAAGTTTGTGTGTCAATGTATGA CCCATAGTGTCTTCTTTTCTTTTCT	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	1/13			chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210520	CATATATA others(46): Show CATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTATATAT ATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19054.hp1 NA18962.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	208	0.0096	-53	c.46 others(64): Show c.4675_*4727delATATATATATACCTTGAATTAGAATTAGGGAGAC TATATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3485		chr21	TogoVar
CLEC19A_chr16_19280731_19315947	19280794	GAGACCAG others(46): Show GAGACCAGCCTGCCCAGCATGGTGAGACCCCCATCTCTACTAAAAATACA AAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	424	0.0024	-53	c.-50 others(64): Show c.-5057_-5005delAGACCAGCCTGCCCAGCATGGTGAGACCCCCATC TCTACTAAAAATACAAAAA	CLEC19A	ENSG00000261210.8	transcript	ENST00000636231.2	protein_coding		4936		chr16	TogoVar
CLN8_chr8_1758789_1791570	1763562	CCGCCGCG others(46): Show CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	412	0.0024	-53	c.-44 others(62): Show c.-446_-394delCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCCCGCCCCCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		226		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763591	GCCCCCCG others(46): Show GCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGC CCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG03516.hp1 others(3): Show HG01074.hp2 HG01496.hp2 HG03516.hp1 NA18988.hp1 NA19010.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0080 a0001c0001t0001 a0001c0001t0068 a0001c0001t0080	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0083 a0001c0001t0068g0081 a0001c0001t0080g0003	6	412	0.0146	-53	c.-41 others(62): Show c.-417_-365delCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCG CCCCCCGCCGCGCCCCT	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		197		chr8	TogoVar
CLYBL_chr13_99601690_99897570	99737141	TTGATACA others(46): Show TTGATACAAATCCATCTTTATTTTCTGCAGGGCCAGCTCCTTAGCCCAGC AGCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp1 NA20752.hp1 HG01074.hp1 HG01169.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170	3	216	0.0139	-53	c.63- others(70): Show c.63-35682_63-35630delTGATACAAATCCATCTTTATTTTCTGCA GGGCCAGCTCCTTAGCCCAGCAGCA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8			chr13	TogoVar
CMSS1_chr3_99812862_100186732	99886216	TTTATCAC others(46): Show TTTATCACTATGCTGAGTTCCTGGTGAGAGGGGAATGAGTGTAAAGCAGG GATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(120): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19079.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0104 others(119): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0132 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0061 a0001c0001t0006g0073 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0018g0002 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	123	232	0.5302	-53	c.64+ others(70): Show c.64+68228_64+68280delTATCACTATGCTGAGTTCCTGGTGAGAG GGGAATGAGTGTAAAGCAGGGATGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT4_chr7_135356795_135515102	135495685	AAAAAAAA others(46): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	347	0.0029	-53	c.-93 others(72): Show c.-93+14151_-93+14203delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
COL13A1_chr10_69796906_69964144	69936125	GAAAGAAG others(46): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0295 a0001c0002t0004g0295	1	322	0.0031	-53	c.177 others(70): Show c.1771-628_1771-576delAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL24A1_chr1_85724233_86161772	86097524	CTCCTCCC others(46): Show CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTTCTCCTCCCCCTCC TCCT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0080 a0002c0007t0002g0080	1	236	0.0042	-53	c.160 others(72): Show c.1600-5257_1600-5205delAGGAGGAGGGGGAGGAGAAGGGAGGA GGAGGGAGGAGGGAGGAGGAGGGAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110253752	ATATAATT others(46): Show ATATAATTATACGTATGTATGTATTATATATACGTATAATTATACGTATA TATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(84): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18943.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011	a0001c0001 a0001c0003 a0001c0006 others(46): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0019 a0001c0020 a0001c0036 a0001c0052 a0001c0055 a0001c0056 a0001c0057 a0001c0059 a0001c0066 a0001c0072 a0001c0079 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0018 a0002c0023 a0002c0024 a0002c0031 a0002c0085 a0002c0092 a0002c0096 a0003c0008 a0003c0009 a0003c0012 a0003c0014 a0003c0027 a0003c0041 a0003c0046 a0003c0049 a0003c0081 a0003c0099 a0003c0111 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0004c0025 a0004c0035 a0004c0074 a0005c0034 a0010c0054 a0011c0113	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(52): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0016t0003 a0001c0019t0001 a0001c0020t0001 a0001c0020t0005 a0001c0036t0003 a0001c0052t0001 a0001c0055t0001 a0001c0056t0003 a0001c0057t0001 a0001c0059t0001 a0001c0066t0001 a0001c0072t0001 a0001c0079t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0015t0001 a0002c0018t0001 a0002c0023t0006 a0002c0024t0002 a0002c0031t0001 a0002c0085t0001 a0002c0092t0002 a0002c0096t0001 a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0009t0002 a0003c0012t0001 a0003c0012t0002 a0003c0014t0002 a0003c0027t0001 a0003c0041t0002 a0003c0046t0002 a0003c0049t0001 a0003c0081t0009 a0003c0099t0003 a0003c0111t0001 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0004c0025t0001 a0004c0035t0001 a0004c0074t0001 a0005c0034t0001 a0010c0054t0001 a0011c0113t0003	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0071 others(82): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0003t0001g0061 a0001c0003t0001g0076 a0001c0003t0001g0117 a0001c0003t0001g0152 a0001c0003t0001g0160 a0001c0006t0001g0141 a0001c0006t0001g0145 a0001c0007t0001g0023 a0001c0007t0001g0067 a0001c0010t0001g0060 a0001c0016t0003g0002 a0001c0016t0003g0109 a0001c0019t0001g0007 a0001c0020t0001g0090 a0001c0020t0001g0110 a0001c0020t0005g0121 a0001c0036t0003g0133 a0001c0052t0001g0147 a0001c0055t0001g0066 a0001c0056t0003g0124 a0001c0057t0001g0053 a0001c0059t0001g0091 a0001c0066t0001g0149 a0001c0072t0001g0139 a0001c0079t0001g0119 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0002g0267 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0002g0327 a0002c0002t0003g0193 a0002c0004t0001g0234 a0002c0004t0001g0258 a0002c0011t0001g0211 a0002c0015t0001g0197 a0002c0018t0001g0174 a0002c0023t0006g0304 a0002c0024t0002g0279 a0002c0031t0001g0252 a0002c0085t0001g0243 a0002c0092t0002g0339 a0002c0096t0001g0257 a0003c0008t0001g0167 a0003c0008t0002g0313 a0003c0008t0002g0331 a0003c0008t0003g0231 a0003c0009t0002g0322 a0003c0009t0002g0332 a0003c0012t0001g0178 a0003c0012t0002g0316 a0003c0014t0002g0317 a0003c0027t0001g0259 a0003c0041t0002g0298 a0003c0046t0002g0290 a0003c0049t0001g0260 a0003c0081t0009g0181 a0003c0099t0003g0230 a0003c0111t0001g0216 a0004c0005t0001g0033 a0004c0005t0001g0058 a0004c0005t0001g0142 a0004c0017t0001g0006 a0004c0021t0001g0037 a0004c0021t0001g0055 a0004c0021t0001g0065 a0004c0022t0001g0050 a0004c0022t0001g0146 a0004c0025t0001g0130 a0004c0035t0001g0069 a0004c0074t0001g0011 a0005c0034t0001g0144 a0005c0034t0001g0163 a0010c0054t0001g0137 a0011c0113t0003g0261	87	325	0.2677	-53	c.85- others(70): Show c.85-11071_85-11019delCATATATACGTATAATTATACGTATATA TAATACATACATACGTATAATTATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45977804	GGAGAGAG others(46): Show GGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGG GGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA19088.hp1 HG01978.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0006c0011t0002 a0001c0001t0002 a0006c0011t0002	a0001c0001t0002g0080 a0006c0011t0002g0097 a0001c0001t0002g0080 a0006c0011t0002g0097	2	126	0.0159	-53	c.-40 others(64): Show c.-4046_-3994delGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGG GAGAGAGGAGGGAGGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3965		chr21	TogoVar
COLEC12_chr18_311737_505701	393353	TAGGCACA others(46): Show TAGGCACAGCAAATTTCATATTTCCCTTTTTTCTTTGGTATCTAGGGAGC TCGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(73): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG03041.hp1 HG03209.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012	a0001c0003 a0001c0004 a0001c0005 others(12): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0001 a0002c0007 a0003c0002 a0003c0010 a0003c0022 a0003c0027 a0004c0006 a0007c0011 a0008c0020 a0011c0015 a0012c0016	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(53): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0010 a0001c0003t0069 a0001c0003t0070 a0001c0003t0101 a0001c0003t0140 a0001c0004t0005 a0001c0004t0040 a0001c0004t0060 a0001c0004t0108 a0001c0004t0124 a0001c0004t0126 a0001c0005t0009 a0001c0005t0076 a0001c0008t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0009 a0002c0001t0017 a0002c0001t0023 a0002c0001t0033 a0002c0001t0039 a0002c0001t0045 a0002c0001t0052 a0002c0001t0111 a0002c0001t0123 a0002c0007t0001 a0002c0007t0024 a0002c0007t0026 a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 a0003c0002t0008 a0003c0002t0015 a0003c0002t0021 a0003c0002t0035 a0003c0002t0042 a0003c0002t0048 a0003c0002t0078 a0003c0002t0094 a0003c0002t0136 a0003c0002t0143 a0003c0002t0150 a0003c0010t0213 a0003c0022t0050 a0003c0027t0109 a0004c0006t0198 a0007c0011t0036 a0008c0020t0004 a0011c0015t0189 a0012c0016t0075	a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0002g0219 others(72): Show a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0002g0219 a0001c0003t0003g0068 a0001c0003t0003g0074 a0001c0003t0003g0125 a0001c0003t0003g0169 a0001c0003t0003g0291 a0001c0003t0007g0234 a0001c0003t0007g0236 a0001c0003t0007g0273 a0001c0003t0010g0178 a0001c0003t0010g0233 a0001c0003t0069g0292 a0001c0003t0070g0299 a0001c0003t0101g0114 a0001c0003t0140g0277 a0001c0004t0005g0221 a0001c0004t0040g0158 a0001c0004t0060g0007 a0001c0004t0108g0136 a0001c0004t0124g0247 a0001c0004t0126g0091 a0001c0005t0009g0025 a0001c0005t0076g0148 a0001c0008t0018g0349 a0001c0008t0018g0350 a0002c0001t0001g0046 a0002c0001t0001g0056 a0002c0001t0001g0263 a0002c0001t0002g0062 a0002c0001t0003g0204 a0002c0001t0004g0127 a0002c0001t0004g0153 a0002c0001t0004g0251 a0002c0001t0009g0149 a0002c0001t0017g0220 a0002c0001t0023g0002 a0002c0001t0023g0083 a0002c0001t0033g0109 a0002c0001t0039g0265 a0002c0001t0045g0151 a0002c0001t0052g0018 a0002c0001t0111g0177 a0002c0001t0123g0028 a0002c0007t0001g0094 a0002c0007t0024g0152 a0002c0007t0026g0027 a0003c0002t0001g0180 a0003c0002t0002g0075 a0003c0002t0002g0076 a0003c0002t0002g0290 a0003c0002t0006g0306 a0003c0002t0008g0281 a0003c0002t0015g0183 a0003c0002t0021g0225 a0003c0002t0035g0012 a0003c0002t0035g0308 a0003c0002t0042g0089 a0003c0002t0042g0115 a0003c0002t0048g0334 a0003c0002t0078g0237 a0003c0002t0094g0024 a0003c0002t0136g0122 a0003c0002t0143g0244 a0003c0002t0150g0146 a0003c0010t0213g0361 a0003c0022t0050g0030 a0003c0027t0109g0126 a0004c0006t0198g0038 a0007c0011t0036g0097 a0007c0011t0036g0226 a0008c0020t0004g0193 a0011c0015t0189g0249 a0012c0016t0075g0054	76	364	0.2088	-53	c.59- others(70): Show c.59-35884_59-35832delCCGAGCTCCCTAGATACCAAAGAAAAAA GGGAAATATGAAATTTGCTGTGCCT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
CPNE7_chr16_89570758_89602246	89587792	ACCCACAG others(46): Show ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01106.hp1 others(12): Show HG00140.hp1 HG00639.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG02486.hp1 HG02486.hp2 HG02735.hp1 HG03516.hp1 NA18944.hp2 NA18977.hp2 NA18980.hp2 NA19065.hp2 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0009c0022	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0009t0001 a0009c0022t0004	a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0170 a0001c0001t0001g0212 a0001c0001t0001g0256 a0001c0001t0001g0333 a0001c0002t0003g0037 a0001c0002t0003g0044 a0001c0002t0003g0253 a0001c0002t0005g0078 a0001c0009t0001g0015 a0009c0022t0004g0281	15	338	0.0444	-53	c.927 others(68): Show c.927+694_927+746delACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	ACCCGCGT others(46): Show ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATAC ACGG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	325	0.0031	-53	c.928 others(68): Show c.928-633_928-581delGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588042	GCGTGTCA others(46): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	320	0.0031	-53	c.928 others(68): Show c.928-605_928-553delCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38901264	CTGTGACA others(46): Show CTGTGACAGGATGTACATTTGATACCTAACATGCAAAGTCTAGAAATACA CAAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	340	0.0029	-53	c.98+ others(68): Show c.98+4120_98+4172delATTGTGTATTTCTAGACTTTGCATGTTAGG TATCAAATGTACATCCTGTCACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPVL_chr7_28990235_29151537	29002987	ATTCAGAG others(46): Show ATTCAGAGATACTGACTGAAAAATTTCCAAAATTGACAAAAGTTACCAAG CCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(67): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18973.hp2 NA18978.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0003c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(67): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0003g0018 a0001c0001t0003g0104 a0001c0001t0005g0213 a0001c0002t0002g0157 a0001c0005t0001g0056 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0008t0001g0127 a0001c0008t0001g0128 a0001c0014t0001g0060 a0003c0010t0001g0009	70	280	0.2500	-53	c.132 others(72): Show c.1321-7158_1321-7106delCTGGCTTGGTAACTTTTGTCAATTTT GGAAATTTTTCAGTCAGTATCTCTGAA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CRACR2A_chr12_3610328_3758109	3751746	GTATAGAA others(46): Show GTATAGAACCGAGAGGTGACAGGACCTCGGAAGCCGTACCTGAAGCCTCT CACT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp2 others(47): Show HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01081.hp2 HG01167.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04228.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18998.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0013 a0014 a0016 a0018 a0021 a0024 a0025 a0027	a0001c0001 a0002c0002 a0003c0003 others(13): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0008 a0008c0007 a0011c0011 a0013c0015 a0014c0016 a0016c0014 a0018c0032 a0021c0031 a0024c0022 a0025c0020 a0027c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0006c0006t0001 a0007c0008t0001 a0008c0007t0001 a0011c0011t0002 a0013c0015t0001 a0014c0016t0001 a0016c0014t0001 a0018c0032t0002 a0021c0031t0002 a0024c0022t0001 a0025c0020t0002 a0027c0025t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 others(46): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0287 a0002c0002t0001g0278 a0003c0003t0001g0109 a0003c0003t0001g0274 a0003c0003t0001g0283 a0003c0003t0001g0286 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0002g0105 a0006c0006t0001g0272 a0007c0008t0001g0291 a0008c0007t0001g0050 a0008c0007t0001g0113 a0011c0011t0002g0106 a0011c0011t0002g0107 a0013c0015t0001g0292 a0014c0016t0001g0001 a0016c0014t0001g0029 a0018c0032t0002g0275 a0021c0031t0002g0112 a0024c0022t0001g0111 a0025c0020t0002g0108 a0027c0025t0001g0114	50	318	0.1572	-53	c.-38 others(72): Show c.-387+1216_-387+1268delAGTGAGAGGCTTCAGGTACGGCTTCC GAGGTCCTGTCACCTCTCGGTTCTATA	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRELD2_chr22_49913634_49932537	49926685	CCCCGGGT others(46): Show CCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCTCTTGCCCCTCCCTCCC CCCA	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0142 a0003c0004t0002g0142	1	322	0.0031	-53	c.101 others(70): Show c.1010-566_1010-514delGGGTCCCCTCTTGCCCCTCCCTCCCCCC CTCTTGCCCCTCCCTCCCCCCACCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926707	CCCTCCCC others(46): Show CCCTCCCCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGC CCCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0138 a0003c0017t0002g0138	1	322	0.0031	-53	c.101 others(70): Show c.1010-545_1010-493delTCCCCCCCTCTTGCCCCTCCCTCCCCCC ACCCCGGGTCCCCTCTTGCCCCTCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923819	CCCCCACA others(46): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03579.hp2 HG01261.hp1 HG03579.hp2	a0002 a0047 a0002 a0047	a0002c0070 a0047c0069 a0002c0070 a0047c0069	a0002c0070t0001 a0047c0069t0001 a0002c0070t0001 a0047c0069t0001	a0002c0070t0001g0021 a0047c0069t0001g0020 a0002c0070t0001g0021 a0047c0069t0001g0020	2	340	0.0059	-53	c.488 others(70): Show c.488+1189_488+1241delGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985462	CCACACAC others(46): Show CCACACACACACACCCAGGCACTCACTCCACACACACACCCAGGCACTCA CTCT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	254	0.0039	-53	c.455 others(72): Show c.4551+2434_4551+2486delCACACACACACACCCAGGCACTCACT CCACACACACACCCAGGCACTCACTCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CSMD1_chr8_2930361_4999914	4920897	AAAAGAAA others(46): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19030.hp2 HG03710.hp1 NA19030.hp2	a0001 a0038 a0001 a0038	a0001c0006 a0038c0104 a0001c0006 a0038c0104	a0001c0006t0060 a0038c0104t0069 a0001c0006t0060 a0038c0104t0069	a0001c0006t0060g0103 a0038c0104t0069g0058 a0001c0006t0060g0103 a0038c0104t0069g0058	2	100	0.0200	-53	c.85+ others(70): Show c.85+73382_85+73434delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494461	CCTTTCTC others(46): Show CCTTTCTCTTTCTTTTCTTTTGTTTCTTTCTCTCCTTTCTTTCTTTCTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01175.hp2 HG01257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0033 a0001c0001 a0002c0033	a0001c0001t0002 a0002c0033t0002 a0001c0001t0002 a0002c0033t0002	a0001c0001t0002g0022 a0002c0033t0002g0029 a0001c0001t0002g0022 a0002c0033t0002g0029	2	70	0.0286	-53	c.508 others(72): Show c.5084-1831_5084-1779delAAAGAAAGAAAGAAAGAAAGGAGAGA AAGAAACAAAAGAAAAGAAAGAGAAAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542633	TATATATG others(46): Show TATATATGTATATATATATATATATATATATATATATATGTATATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	377	0.0027	-53	c.230 others(70): Show c.230+7389_230+7441delTATATATATATATACATATATATATATA TATATATATATATATATACATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542635	TATATGTA others(46): Show TATATGTATATATATATATATATATATATATATATATGTATATATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	388	0.0026	-53	c.230 others(70): Show c.230+7387_230+7439delTATATATATATATATACATATATATATA TATATATATATATATATATACATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542642	ATATATAT others(46): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	370	0.0027	-53	c.230 others(70): Show c.230+7380_230+7432delAAATATATATATATATATATATACATAT ATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSTF3_chr11_33079584_33166480	33163887	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	358	0.0028	-53	c.-26 others(64): Show c.-2615_-2563delAAAAAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2408		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163889	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	357	0.0028	-53	c.-26 others(64): Show c.-2617_-2565delAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2410		chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931029	GAGCAGGT others(46): Show GAGCAGGTCTAAGTCGGAGGCCAAGGTCTGCGGAGTCAAGGACAGCTTCT GAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0131 a0002c0001t0131	a0002c0001t0131g0316 a0002c0001t0131g0316	1	384	0.0026	-53	c.199 others(70): Show c.199-1481_199-1429delTTTCAGAAGCTGTCCTTGACTCCGCAGA CCTTGGCCTCCGACTTAGACCTGCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F8_chr19_15610218_15635639	15616044	ACTCACTC others(46): Show ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCATTCACTCAT TCTC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0063 a0001c0004t0004g0063	1	410	0.0024	-53	c.198 others(68): Show c.198+271_198+323delTTCACTCATTCTCCTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCA	CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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