Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BATF2_chr11_64982945_65001971	64983517	TTATTTTA others(36): Show TTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG04228.hp2 HG01069.hp2 HG01071.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	404	0.0074	-43	c.55 others(54): Show c.5569_*5611delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAAATA		BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding					4427		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159325074	ATATTATA others(36): Show ATATTATATATATATATATTATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18984.hp1 HG00558.hp2 NA18984.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0011 a0004c0004 a0008c0011	a0004c0004t0001 a0008c0011t0001 a0004c0004t0001 a0008c0011t0001	a0004c0004t0001g0119 a0008c0011t0001g0080 a0004c0004t0001g0119 a0008c0011t0001g0080	2	216	0.0093	-43	c.621 others(60): Show c.6210-163_6210-121delAAATATATATATATATATATATATAATA TATATATATATAATA		BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507340	AAGGGAAG others(36): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	262	0.0038	-43	c.386 others(62): Show c.386-38550_386-38508delCCCTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL9_chr1_147536501_147631216	147541076	AGAGAGAG others(36): Show AGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01169.hp1 HG02602.hp1 others(18): Show HG00597.hp1 HG01169.hp1 HG02602.hp1 HG02683.hp2 HG02886.hp2 HG02897.hp1 HG03017.hp1 HG03195.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18999.hp1 NA19003.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp2 NA19090.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0007 a0001c0001t0001g0079 a0001c0001t0001g0116 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0002g0276 a0001c0001t0004g0095 a0001c0001t0004g0134 a0001c0001t0004g0144 a0001c0001t0005g0005 a0001c0001t0005g0042 a0001c0001t0005g0070 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0140 a0001c0001t0005g0151 a0001c0001t0006g0018 a0001c0001t0007g0073 a0001c0001t0007g0085 a0002c0002t0001g0099 a0002c0002t0007g0100	21	316	0.0665	-43	c.-10 others(54): Show c.-1075_-1033delGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGA GAGAGAGAG		BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding					424		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510641	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0026 a0001c0001t0079g0026	1	319	0.0031	-43	c.12 others(54): Show c.1211_*1253delCTTACACACATGTACACACACACACACACACACA CACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1211		chr3	TogoVar
BLTP3A_chr6_34787083_34882514	34829015	GAAACTCC others(36): Show GAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(49): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02965.hp1 HG03710.hp2 HG04115.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp2	a0002 a0021 a0022 a0002 a0021 a0022	a0002c0002 a0002c0032 a0021c0031 others(1): Show a0002c0002 a0002c0032 a0021c0031 a0022c0030	a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 others(6): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 a0002c0002t0040 a0002c0002t0042 a0002c0002t0046 a0002c0032t0002 a0021c0031t0002 a0022c0030t0002	a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(49): Show a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0037g0074 a0002c0002t0040g0078 a0002c0002t0042g0050 a0002c0002t0046g0081 a0002c0032t0002g0073 a0021c0031t0002g0070 a0022c0030t0002g0096	52	312	0.1667	-43	c.339 others(60): Show c.339-5197_339-5155delTCCATCTCAAAAAAAAAAAAAAAAAAAA AAAAAAGAAGAAAAC		BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr6	TogoVar
BNC2_chr9_16404503_16875670	16752876	CTTAGGGT others(36): Show CTTAGGGTTTCTAAATGAATACAGTGCACTACATTCACTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	176	0.0057	-43	c.4-1 others(58): Show c.4-14434_4-14392delCTGAGAGTGAATGTAGTGCACTGTATTCAT TTAGAAACCCTAA		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6						chr9	TogoVar
BORCS8_chr19_19171906_19197152	19177681	GAAGGAAG others(36): Show GAAGGAAGGAAGGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	428	0.0023	-43	c.43 others(58): Show c.43-264_*43-222delTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TCCTTCCTTCCTT		BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5						chr19	TogoVar
BRAT1_chr7_2532810_2560524	2558624	GTCGCCCA others(36): Show GTCGCCCAGGCTGGACTGTAGTGGTGCAATCATAGCTCACTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	424	0.0024	-43	c.-31 others(54): Show c.-3197_-3155delTGCAGTGAGCTATGATTGCACCACTACAGTCCAG CCTGGGCGA		BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding					3101		chr7	TogoVar
C13orf46_chr13_113948705_113979076	113955583	ATCTCGTG others(36): Show ATCTCGTGGAGCGGAGGAGCATCTGGCAGAGACGAGGAGTAGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19059.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(50): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0008t0001 a0002c0002t0004 a0002c0002t0044 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0017g0027 a0001c0001t0017g0211 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0044g0066 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	192	414	0.4638	-43	c.11 others(54): Show c.1147_*1189delCACTACTCCTCGTCTCTGCCAGATGCTCCTCCGC TCCACGAGA		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	7/7				1147		chr13	TogoVar
C16orf74_chr16_85702517_85756096	85745759	GACAGAAT others(36): Show GACAGAATCTCCCGCTGGCTGGAGGGACCCTGCTTTCCAAAGAC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	410	0.0024	-43	c.-19 others(60): Show c.-19+5124_-19+5166delGTCTTTGGAAAGCAGGGTCCCTCCAGCC AGCGGGAGATTCTGT		C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	1/3						chr16	TogoVar
C1QTNF12_chr1_1237453_1251722	1242514	GGCGGCAG others(36): Show GGCGGCAGCTCCTCGCCAGCCCCCCTGGGCGCCCTCACGTGCCC	G G	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG04115.hp1 HG04115.hp1	a0000 a0000	a0000c0022 a0000c0022	a0000c0022t0005 a0000c0022t0005	a0000c0022t0005g0034 a0000c0022t0005g0034	1	328	0.0031	-43	c.900 others(50): Show c.900_*33delGGGCACGTGAGGGCGCCCAGGGGGGCTGGCGAGGAGCT GCCGC	p.Leu others(5): Show p.Leu300fs	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	8/8	974/1036	900/909	300/302			chr1	TogoVar
C1orf159_chr1_1076823_1121089	1087868	GGCCCCGA others(36): Show GGCCCCGAGTACTCCACGCTGCACTCTCCACGCCGAGCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0069 a0001c0002t0020g0069	1	326	0.0031	-43	c.149 others(58): Show c.149-314_149-272delTGGGGTGCTCGGCGTGGAGAGTGCAGCGTG GAGTACTCGGGGC		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	4/9						chr1	TogoVar
C1orf159_chr1_1076823_1121089	1100250	ATTATGGG others(36): Show ATTATGGGTAGATGTAGGTATGTTAATATTTAATATAATTACTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 HG01884.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0065 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0002g0065 a0001c0001t0003g0011 a0001c0001t0003g0012	3	326	0.0092	-43	c.-13 others(62): Show c.-135-8190_-135-8148delCAGTAATTATATTAAATATTAACATA CCTACATCTACCCATAA		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9						chr1	TogoVar
C20orf204_chr20_64031182_64044001	64042874	CGGGGGTC others(36): Show CGGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	-43	c.41 others(54): Show c.4116_*4158delGGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGG GACGGGACG		C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding					3874		chr20	TogoVar
C3orf70_chr3_185071838_185158060	185091925	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	388	0.0026	-43	c.197 others(60): Show c.197-8405_197-8363delAAAAATATATATATATATATATATATAT ATATATATATATATA		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1						chr3	TogoVar
C3orf70_chr3_185071838_185158060	185153036	TCCGGCGC others(36): Show TCCGGCGCGGCGCGCGCCGCGCCCCACGCGCACACGCACGCGCA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0002 a0001c0001t0047g0002	1	388	0.0026	-43	c.-25 others(52): Show c.-256_-214delTGCGCGTGCGTGTGCGCGTGGGGCGCGGCGCGCGCC GCGCCGG		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/2				214		chr3	TogoVar
C5_chr9_120947335_121055275	121024236	GGGGAGGG others(36): Show GGGGAGGGGGGAGGGGGAGGGGGGAGTGGGAGGGGGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0022 a0003c0004t0001g0022	1	276	0.0036	-43	c.100 others(60): Show c.1001-760_1001-718delTCCCCCTCCCCCCTCCCACTCCCCCCTC CCCCTCCCCCCTCCC		C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40						chr9	TogoVar
C7orf57_chr7_48030543_48066297	48051804	TTCCTTTT others(36): Show TTCCTTTTCTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	404	0.0025	-43	c.606 others(58): Show c.606-894_606-852delCCTTTTCTCTTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCT		C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
C8orf33_chr8_145047467_145061030	145052234	GCCGCGCC others(36): Show GCCGCGCCCCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(86): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01109.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19076.hp2 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0002g0001 a0001c0001t0007g0001 a0001c0001t0009g0001 a0001c0001t0018g0001 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0026g0001 a0003c0005t0001g0002	89	406	0.2192	-43	c.-25 others(52): Show c.-257_-215delCCGCGCCCCGCCCCGCCCGCTCCCCGCCCCGCCCGC GCCCCGC		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					232		chr8	TogoVar
CA6_chr1_8940868_8980092	8973741	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp1 HG02717.hp2 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0023 a0002c0001 a0008c0023	a0002c0001t0001 a0008c0023t0001 a0002c0001t0001 a0008c0023t0001	a0002c0001t0001g0416 a0008c0023t0001g0314 a0002c0001t0001g0416 a0008c0023t0001g0314	2	452	0.0044	-43	c.845 others(58): Show c.845-878_845-836delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CABP2_chr11_67513912_67528446	67525135	TGCCCCCT others(36): Show TGCCCCCTCCTTCCCTCCCTCCTCCCCAGGGTCCCTCTGTGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	374	0.0027	-43	c.-18 others(54): Show c.-1852_-1810delTAGCACAGAGGGACCCTGGGGAGGAGGGAGGGAA GGAGGGGGC		CABP2	ENSG00000167791.14	transcript	ENST00000294288.5	protein_coding					1690		chr11	TogoVar
CACNA1A_chr19_13201442_13511479	13346634	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0007 a0016c0028t0007	a0016c0028t0007g0073 a0016c0028t0007g0084 a0016c0028t0007g0073 a0016c0028t0007g0084	2	218	0.0092	-43	c.979 others(62): Show c.979-10768_979-10726delAAAAAAAAAAATATATATATATATAT ATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346636	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0038 a0007c0009t0038	a0007c0009t0038g0153 a0007c0009t0038g0153	1	218	0.0046	-43	c.979 others(62): Show c.979-10770_979-10728delAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497510	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0118 a0013c0027t0001g0118	1	218	0.0046	-43	c.293 others(60): Show c.293+8379_293+8421delATATATATATATATATATATATATATAT ATATTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA2D1_chr7_81941444_82448777	82060180	TATATATA others(36): Show TATATATATATTATATATATATTATATATATAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02717.hp2 others(2): Show HG01891.hp2 HG02451.hp1 HG02717.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0074 others(2): Show a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0006g0098	5	144	0.0347	-43	c.879 others(58): Show c.879+205_879+247delTTATATATATATTATATATATAATATATAT ATAATATATATAT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38						chr7	TogoVar
CADM2_chr3_84953989_86079429	85769068	CATATATA others(36): Show CATATATACATATATAGTATATATACACATATATACATATATGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0002 a0001c0001t0052g0002	1	146	0.0069	-43	c.89- others(60): Show c.89-32969_89-32927delTATATAGTATATATACACATATATACAT ATATGTATATATACA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12519363	ACCTCCCT others(36): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	214	0.0047	-43	c.93- others(60): Show c.93-33833_93-33791delACCCCCCCCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691376	TAAATATA others(36): Show TAAATATATATATATATATATATATATAAATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0055 a0001c0001t0040g0055	1	214	0.0047	-43	c.299 others(62): Show c.299+24567_299+24609delAAATATATATATATATATATATATAT AAATATATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827436	CTTCTTTC others(36): Show CTTCTTTCTTTCTTTCTTTTCTTTCTTTGTCTGTCTGTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(76): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0058 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0097 a0001c0001t0101 a0001c0001t0103 a0001c0001t0110 a0001c0002t0011 a0001c0002t0032 a0001c0003t0022	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0003g0001 others(76): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0180 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0005g0015 a0001c0001t0005g0040 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0137 a0001c0001t0005g0189 a0001c0001t0005g0204 a0001c0001t0006g0073 a0001c0001t0006g0075 a0001c0001t0006g0152 a0001c0001t0006g0178 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0009g0213 a0001c0001t0011g0009 a0001c0001t0011g0018 a0001c0001t0012g0169 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0190 a0001c0001t0028g0099 a0001c0001t0029g0059 a0001c0001t0029g0136 a0001c0001t0030g0188 a0001c0001t0031g0168 a0001c0001t0031g0170 a0001c0001t0038g0049 a0001c0001t0038g0175 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0047g0066 a0001c0001t0048g0182 a0001c0001t0050g0027 a0001c0001t0058g0093 a0001c0001t0069g0044 a0001c0001t0071g0121 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0076g0128 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0082g0067 a0001c0001t0083g0061 a0001c0001t0097g0065 a0001c0001t0101g0156 a0001c0001t0103g0162 a0001c0001t0110g0150 a0001c0002t0011g0164 a0001c0002t0032g0008 a0001c0003t0022g0024	79	214	0.3692	-43	c.104 others(62): Show c.1040-1314_1040-1272delTCTTTCTTTGTCTGTCTGTCTTTCTT TCTTTCTTTCTTTCTTT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CANT1_chr17_78986716_79014764	79004287	AGTTAGGG others(36): Show AGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	394	0.0025	-43	c.-14 others(62): Show c.-147+5334_-147+5376delCTCCCTCTCCCTAACTCCCCTCTCCC TAACTCCCCTCCCTAAC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79004717	GGTTAGGG others(36): Show GGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18967.hp2 HG03927.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0099 a0001c0002t0005g0083 a0001c0002t0002g0099 a0001c0002t0005g0083	2	394	0.0051	-43	c.-14 others(62): Show c.-147+4904_-147+4946delTCCCTTCTCCCTAACTCCCCTCCCTA ACTCCCCTCTCCCTAAC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79004988	GGTTAGGG others(36): Show GGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19079.hp1 NA18951.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	394	0.0051	-43	c.-14 others(62): Show c.-147+4633_-147+4675delTCCCTTCTCCCTAACTCCCCTCCCTA ACTCCCCTCTCCCTAAC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CAPN11_chr6_44153820_44189401	44158956	GTGCCCCT others(36): Show GTGCCCCTTGAGGGTACAGAGAGTGACTCTTCCATCAGACTGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(144): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0015 a0018 a0019	a0001c0001 a0002c0002 a0003c0003 others(11): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0005 a0007c0007 a0008c0008 a0009c0009 a0012c0014 a0013c0023 a0015c0018 a0018c0021 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0004c0004t0001 a0004c0004t0004 a0005c0006t0001 a0005c0006t0002 a0006c0005t0001 a0007c0007t0001 a0007c0007t0002 a0008c0008t0001 a0008c0008t0002 a0009c0009t0001 a0012c0014t0001 a0013c0023t0001 a0015c0018t0008 a0018c0021t0002 a0019c0022t0002	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0311 others(140): Show a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0001g0403 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0001g0421 a0001c0001t0001g0424 a0001c0001t0001g0425 a0001c0001t0001g0427 a0001c0001t0001g0434 a0001c0001t0002g0393 a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0001t0002g0399 a0001c0001t0002g0400 a0001c0001t0002g0401 a0001c0001t0002g0402 a0001c0001t0005g0340 a0002c0002t0001g0318 a0002c0002t0001g0324 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0363 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0371 a0002c0002t0001g0375 a0002c0002t0001g0384 a0002c0002t0001g0389 a0002c0002t0001g0391 a0002c0002t0001g0397 a0002c0002t0001g0398 a0002c0002t0001g0404 a0002c0002t0001g0409 a0002c0002t0001g0415 a0002c0002t0001g0437 a0002c0002t0002g0343 a0002c0002t0002g0414 a0003c0003t0001g0376 a0003c0003t0002g0014 a0003c0003t0002g0313 a0003c0003t0002g0316 a0003c0003t0002g0333 a0003c0003t0002g0353 a0003c0003t0002g0364 a0003c0003t0002g0377 a0003c0003t0002g0378 a0003c0003t0002g0379 a0003c0003t0002g0380 a0003c0003t0002g0381 a0003c0003t0002g0382 a0003c0003t0002g0383 a0003c0003t0002g0419 a0003c0003t0002g0422 a0003c0003t0002g0423 a0003c0003t0002g0426 a0003c0003t0003g0308 a0003c0003t0003g0323 a0003c0003t0003g0331 a0003c0003t0003g0334 a0003c0003t0003g0368 a0003c0003t0007g0350 a0004c0004t0001g0013 a0004c0004t0001g0016 a0004c0004t0001g0309 a0004c0004t0001g0317 a0004c0004t0001g0319 a0004c0004t0001g0326 a0004c0004t0001g0329 a0004c0004t0001g0335 a0004c0004t0001g0336 a0004c0004t0001g0339 a0004c0004t0001g0355 a0004c0004t0001g0396 a0004c0004t0001g0407 a0004c0004t0001g0433 a0004c0004t0004g0321 a0005c0006t0001g0387 a0005c0006t0002g0307 a0005c0006t0002g0429 a0005c0006t0002g0430 a0005c0006t0002g0431 a0006c0005t0001g0015 a0006c0005t0001g0327 a0006c0005t0001g0330 a0006c0005t0001g0349 a0006c0005t0001g0410 a0006c0005t0001g0436 a0006c0005t0001g0438 a0007c0007t0001g0303 a0007c0007t0001g0314 a0007c0007t0001g0418 a0007c0007t0001g0420 a0007c0007t0001g0432 a0007c0007t0001g0439 a0007c0007t0002g0416 a0008c0008t0001g0370 a0008c0008t0001g0417 a0008c0008t0002g0302 a0008c0008t0002g0306 a0008c0008t0002g0373 a0008c0008t0002g0374 a0008c0008t0002g0428 a0009c0009t0001g0369 a0009c0009t0001g0435 a0009c0009t0001g0440 a0012c0014t0001g0332 a0013c0023t0001g0315 a0015c0018t0008g0322 a0018c0021t0002g0372 a0019c0022t0002g0310	147	460	0.3196	-43	c.16+ others(56): Show c.16+139_16+181delCCCTTGAGGGTACAGAGAGTGACTCTTCCATC AGACTGGATGC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPZA2_chr7_116857587_116927049	116890526	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19091.hp2 HG03195.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0228 a0001c0001t0036g0292 a0001c0001t0001g0228 a0001c0001t0036g0292	2	354	0.0057	-43	c.103 others(60): Show c.103+2337_103+2379delTATATATATATATATATATATATATATA TATATATATATATAC		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9						chr7	TogoVar
CARD11_chr7_2901142_3048867	2942319	TCCTCCCT others(36): Show TCCTCCCTCTTCCTTCCTTCCTCCCTCCCTCCCCTTCCTTACTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp2 HG02486.hp2 others(4): Show HG01106.hp1 HG01169.hp2 HG02486.hp2 HG02886.hp2 HG04199.hp2 NA19079.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0039 a0006c0026	a0001c0001t0001 a0001c0004t0002 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0004t0002 a0001c0005t0001 a0001c0007t0001 a0001c0039t0001 a0006c0026t0001	a0001c0001t0001g0103 a0001c0004t0002g0258 a0001c0005t0001g0263 others(4): Show a0001c0001t0001g0103 a0001c0004t0002g0258 a0001c0005t0001g0263 a0001c0007t0001g0140 a0001c0007t0001g0244 a0001c0039t0001g0313 a0006c0026t0001g0164	7	322	0.0217	-43	c.684 others(60): Show c.684+1850_684+1892delGAGTAAGGAAGGGGAGGGAGGGAGGAAG GAAGGAAGAGGGAGG		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24						chr7	TogoVar
CARMIL1_chr6_25274374_25625530	25450779	CCCTCCCT others(36): Show CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCCTCCCCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01952.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18956.hp1 NA18956.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp1 NA19072.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0022 a0001c0029 a0001c0033 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0028 a0003c0010 a0003c0023 a0003c0024 a0003c0025 a0004c0011 a0005c0030 a0006c0016 a0011c0036 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0016 a0001c0002t0022 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0004t0004 a0001c0004t0006 a0001c0004t0012 a0001c0004t0018 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0008t0001 a0001c0008t0010 a0001c0012t0005 a0001c0012t0006 a0001c0022t0002 a0001c0029t0006 a0001c0033t0001 a0001c0037t0002 a0002c0005t0003 a0002c0005t0005 a0002c0005t0006 a0002c0005t0013 a0002c0007t0003 a0002c0007t0006 a0002c0013t0010 a0002c0013t0013 a0002c0013t0016 a0002c0028t0003 a0003c0010t0003 a0003c0010t0005 a0003c0023t0002 a0003c0024t0008 a0003c0025t0002 a0004c0011t0003 a0004c0011t0006 a0004c0011t0013 a0005c0030t0005 a0006c0016t0001 a0006c0016t0005 a0011c0036t0001 a0012c0026t0002	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0080 others(93): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0128 a0001c0001t0005g0095 a0001c0001t0005g0136 a0001c0001t0008g0101 a0001c0001t0008g0133 a0001c0001t0010g0140 a0001c0001t0012g0179 a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0003g0060 a0001c0002t0005g0154 a0001c0002t0005g0175 a0001c0002t0005g0180 a0001c0002t0007g0146 a0001c0002t0008g0026 a0001c0002t0016g0135 a0001c0002t0022g0164 a0001c0003t0002g0010 a0001c0003t0002g0082 a0001c0003t0002g0114 a0001c0003t0004g0022 a0001c0003t0008g0127 a0001c0003t0010g0155 a0001c0003t0010g0185 a0001c0004t0004g0096 a0001c0004t0004g0121 a0001c0004t0006g0027 a0001c0004t0012g0177 a0001c0004t0018g0093 a0001c0006t0001g0126 a0001c0006t0002g0074 a0001c0006t0002g0087 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0006t0002g0110 a0001c0006t0002g0117 a0001c0006t0002g0131 a0001c0006t0003g0049 a0001c0006t0003g0069 a0001c0006t0004g0062 a0001c0008t0001g0003 a0001c0008t0001g0018 a0001c0008t0001g0066 a0001c0008t0001g0100 a0001c0008t0010g0148 a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0022t0002g0108 a0001c0029t0006g0129 a0001c0033t0001g0124 a0001c0037t0002g0083 a0002c0005t0003g0045 a0002c0005t0005g0158 a0002c0005t0006g0021 a0002c0005t0006g0116 a0002c0005t0013g0123 a0002c0007t0003g0024 a0002c0007t0006g0033 a0002c0007t0006g0035 a0002c0007t0006g0091 a0002c0013t0010g0047 a0002c0013t0013g0186 a0002c0013t0016g0169 a0002c0028t0003g0038 a0003c0010t0003g0104 a0003c0010t0003g0112 a0003c0010t0003g0132 a0003c0010t0005g0142 a0003c0023t0002g0072 a0003c0024t0008g0019 a0003c0025t0002g0063 a0004c0011t0003g0077 a0004c0011t0003g0113 a0004c0011t0006g0044 a0004c0011t0013g0055 a0005c0030t0005g0159 a0006c0016t0001g0030 a0006c0016t0005g0165 a0006c0016t0005g0168 a0011c0036t0001g0001 a0012c0026t0002g0070	96	186	0.5161	-43	c.614 others(57): Show c.614+71_614+113delTCCCTTCCTCCCTCCCTTCCTCCCTCCCCTC CCCTCCCCTTCC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL3_chr14_24047009_24074729	24051966	TGGGCGGG others(36): Show TGGGCGGGGGAGCCGGCGCTCCGAGGCGGGGGGAGGAGCGCTCA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp1 HG04199.hp1 HG04228.hp2 others(1): Show HG03041.hp1 HG04199.hp1 HG04228.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0013 a0004c0017 a0001c0003 a0002c0013 a0004c0017	a0001c0003t0003 a0002c0013t0003 a0004c0017t0003 a0001c0003t0003 a0002c0013t0003 a0004c0017t0003	a0001c0003t0003g0151 a0002c0013t0003g0081 a0004c0017t0003g0039 a0001c0003t0003g0151 a0002c0013t0003g0081 a0004c0017t0003g0039	4	414	0.0097	-43	c.-18 others(52): Show c.-187_-145delGGGCGGGGGAGCCGGCGCTCCGAGGCGGGGGGAGGA GCGCTCA		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/40				145		chr14	TogoVar
CASP4_chr11_104937866_104973574	104967883	TTCTGTGT others(36): Show TTCTGTGTATAAGACAGGTGACCTAAAAGTTGTGTGCAGAATGG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	358	0.0028	-43	c.7+5 others(54): Show c.7+593_7+635delCCATTCTGCACACAACTTTTAGGTCACCTGTCTT ATACACAGA		CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	1/8						chr11	TogoVar
CAV1_chr7_116520036_116566179	116555497	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	342	0.0029	-43	c.196 others(60): Show c.196-3447_196-3405delAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAGAGAGAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555499	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	342	0.0029	-43	c.196 others(60): Show c.196-3446_196-3404delGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAG		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2						chr7	TogoVar
CAV1_chr7_116520036_116566179	116555501	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	342	0.0029	-43	c.196 others(60): Show c.196-3442_196-3400delGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555505	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19077.hp2 HG03704.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0304 a0001c0001t0002g0260 a0001c0001t0002g0304	2	342	0.0059	-43	c.196 others(60): Show c.196-3438_196-3396delGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88934145	CCGCCCCT others(36): Show CCGCCCCTCGGCACACGGAGGCACCGGCGAGAAGGGCTGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp2 HG01891.hp1 others(10): Show HG01123.hp1 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp2 NA19043.hp1 NA19043.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0005c0012 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0016t0005 a0005c0012t0001 a0007c0014t0001	a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0120 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0002g0265 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0003t0001g0252 a0001c0003t0002g0253 a0001c0016t0005g0069 a0005c0012t0001g0121 a0007c0014t0001g0247	13	284	0.0458	-43	c.152 others(62): Show c.152-32532_152-32490delTGGGGCAGCCCTTCTCGCCGGTGCCT CCGTGTGCCGAGGGGCG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	TCTCTGCT others(36): Show TCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03540.hp2 HG03654.hp2 others(1): Show HG01517.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0260 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0260 a0001c0001t0001g0270	4	284	0.0141	-43	c.151 others(60): Show c.151+1446_151+1488delGGTCAGGGTGGACCTCTGACATGGCTAA AGATGTGGAGCAGAG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975185	TAGCCATG others(36): Show TAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03579.hp2 HG04115.hp1 others(2): Show HG01070.hp2 HG03579.hp2 HG04115.hp1 NA19043.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0005t0012 a0001c0001t0001 a0001c0001t0009 a0001c0005t0012	a0001c0001t0001g0010 a0001c0001t0001g0122 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0009g0135 a0001c0005t0012g0184	5	284	0.0176	-43	c.151 others(60): Show c.151+1429_151+1471delGCAGGTGAGGAGCAGAGGGTCAGGGTGG ACCTCTGACATGGCT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975203	ACCCTGAC others(36): Show ACCCTGACCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02145.hp1 others(4): Show HG01167.hp2 HG01496.hp1 HG02145.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0002t0005 a0001c0002t0035 others(3): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0010t0002	a0001c0001t0001g0164 a0001c0001t0001g0258 a0001c0002t0005g0005 others(4): Show a0001c0001t0001g0164 a0001c0001t0001g0258 a0001c0002t0005g0005 a0001c0002t0035g0284 a0001c0003t0001g0252 a0001c0003t0002g0253 a0001c0010t0002g0282	7	284	0.0247	-43	c.151 others(60): Show c.151+1411_151+1453delCGGGCCTCTGACATGGCTGCAGGTGAGG AGCAGAGGGTCAGGG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CCBE1_chr18_59425939_59702423	59658355	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	242	0.0041	-43	c.212 others(62): Show c.212+38231_212+38273delATATATATATATATATATATATATAT ATATATATATATATATA		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC14_chr3_123908422_123966229	123960182	GCTATTTG others(36): Show GCTATTTGAGAATCATATAAGCATTTCTTAGTAGTCATATCTCC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	368	0.0027	-43	c.30+ others(56): Show c.30+919_30+961delGGAGATATGACTACTAAGAAATGCTTATATGA TTCTCAAATAG		CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	1/12						chr3	TogoVar
CCDC170_chr6_151489017_151626193	151498895	TCTGTATA others(36): Show TCTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0232 a0001c0001t0059g0232	1	320	0.0031	-43	c.57+ others(58): Show c.57+4785_57+4827delCTTCTAGGCACACTGTATAAGTGGAATCAG ACTGTATTTGACT		CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar

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