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	status	chr	external
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0004t0002 a0002c0004t0024 a0002c0004t0026 a0002c0004t0040 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0002c0020t0002 a0002c0020t0041 a0002c0021t0025 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0136 a0002c0004t0024g0006 a0002c0004t0026g0030 a0002c0004t0040g0011 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0041g0020 a0002c0021t0025g0084 a0002c0022t0002g0020	73	430	0.1698	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ABCA13_chr7_48166458_48652497	48412584	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18959.hp2 NA18992.hp1 NA18998.hp1 others(1): Show NA18959.hp2 NA18992.hp1 NA18998.hp1 NA19011.hp1	a0005 a0009 a0011 others(1): Show a0005 a0009 a0011 a0082	a0005c0007 a0009c0017 a0011c0031 others(1): Show a0005c0007 a0009c0017 a0011c0031 a0082c0062	a0005c0007t0002 a0009c0017t0002 a0011c0031t0003 others(1): Show a0005c0007t0002 a0009c0017t0002 a0011c0031t0003 a0082c0062t0003	a0005c0007t0002g0129 a0009c0017t0002g0052 a0011c0031t0003g0112 others(1): Show a0005c0007t0002g0129 a0009c0017t0002g0052 a0011c0031t0003g0112 a0082c0062t0003g0143	4	176	0.0227	0	c.124 others(7): Show c.12459+1G>T		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61					chr7	TogoVar
ABCC10_chr6_43422541_43455427	43450013	C C	CACCTATC others(42): Show CACCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGCCTCCCCGAGCCA	frameshift_variant frameshift_variant	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	49	c.440 others(58): Show c.4402_4403insCCTATCCACTCCCTGGTTCAGAACAGTGTACCAGGC CTCCCCGAGCCAA	p.Asn others(6): Show p.Asn1468fs	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4631/5043	4403/4479	1468/1492	INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450080	G G	T T	stop_gained stop_gained	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	0	c.446 others(4): Show c.4468G>T	p.Gly others(5): Show p.Gly1490*	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4696/5043	4468/4479	1490/1492		chr6	TogoVar
ABCC10_chr6_43422541_43455427	43450090	G G	C C	stop_lost stop_lost	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	0	c.447 others(4): Show c.4478G>C	p.Ter others(12): Show p.Ter1493Serext*?	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4706/5043	4478/4479	1493/1492		chr6	TogoVar
ABHD16B_chr20_63856498_63867988	63862607	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show HG00597.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG03453.hp1 NA18950.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19011.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0016 a0005c0007 a0003c0003 a0003c0016 a0005c0007	a0003c0003t0001 a0003c0016t0001 a0005c0007t0001 a0003c0003t0001 a0003c0016t0001 a0005c0007t0001	a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000 a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000	18	396	0.0455	1	c.107 others(5): Show c.1071dupC	p.Val others(5): Show p.Val358fs	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	1115/1491	1072/1410	358/469	INFO_REALIGN_3_PRIME	chr20	TogoVar
ABHD18_chr4_127960406_128044953	127983049	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00609.hp1 NA18977.hp2 NA19005.hp2 others(1): Show HG00609.hp1 NA18977.hp2 NA19005.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0020 a0002c0002t0053 a0002c0002t0001 a0002c0002t0020 a0002c0002t0053	a0002c0002t0001g0286 a0002c0002t0001g0322 a0002c0002t0020g0308 others(1): Show a0002c0002t0001g0286 a0002c0002t0001g0322 a0002c0002t0020g0308 a0002c0002t0053g0330	4	342	0.0117	0	c.92+ others(4): Show c.92+2C>T		ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	2/12					chr4	TogoVar
AKR1C8_chr10_5148920_5190150	5159943	GTGATTGA others(229): Show GTGATTGAAATTGGACACCCCAATGGACCTGGTTAAACCTGCTTCTTTGC ACTTCTCCAGGGCCTGGGGAGGAAGGATATGGGTGATAGACCTTTAGTGT AAATTTTTCTTTTCAATTGGCGTTTGACTTTGTAAATGCTGGAAATCTGT TTTAACATATATAAATATTAGACTGAATTAAACAGTTTTATCACTTGAAT ATACAATTTCCTAATGCATTACCTTGCTATGCATATA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp2 HG02602.hp2 HG03239.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18941.hp2 NA18953.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0002 a0003c0004t0002 a0003c0006t0002	a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 others(27): Show a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0030 a0003c0004t0002g0031 a0003c0004t0002g0067 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0162 a0003c0006t0002g0029 a0003c0006t0002g0060 a0003c0006t0002g0061 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0064	43	406	0.1059	-236	c.457 others(11): Show c.457-174_518del	p.Ala others(5): Show p.Ala153fs	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	5/9	564/1247	457/981	153/326		chr10	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0023 a0001c0025 a0002c0002 a0004c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0016 a0011c0014 a0012c0017 a0013c0020 a0014c0019 a0015c0028 a0016c0021 a0017c0027 a0018c0026 a0019c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0002c0002t0002 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0004c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0016t0006 a0011c0014t0017 a0011c0014t0018 a0012c0017t0009 a0013c0020t0001 a0014c0019t0001 a0015c0028t0002 a0016c0021t0001 a0017c0027t0002 a0018c0026t0014 a0019c0018t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0006g0176 a0001c0001t0007g0042 a0001c0001t0009g0126 a0001c0001t0011g0051 a0001c0001t0013g0119 a0001c0001t0015g0117 a0001c0007t0001g0022 a0001c0007t0001g0056 a0001c0007t0001g0059 a0001c0007t0001g0090 a0001c0007t0001g0094 a0001c0007t0012g0098 a0001c0009t0005g0083 a0001c0009t0005g0084 a0001c0009t0005g0085 a0001c0011t0001g0055 a0001c0011t0001g0057 a0001c0011t0001g0058 a0001c0015t0004g0048 a0001c0022t0001g0124 a0001c0023t0001g0145 a0001c0025t0001g0133 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0020g0156 a0002c0002t0021g0160 a0002c0002t0022g0164 a0002c0002t0023g0162 a0002c0002t0024g0191 a0004c0003t0001g0013 a0004c0003t0001g0021 a0004c0003t0001g0036 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0095 a0004c0003t0001g0097 a0004c0003t0001g0100 a0004c0003t0001g0151 a0005c0005t0001g0003 a0005c0005t0001g0035 a0005c0005t0001g0089 a0005c0005t0001g0103 a0006c0006t0001g0005 a0006c0006t0001g0105 a0007c0008t0001g0031 a0007c0008t0001g0060 a0007c0008t0001g0062 a0007c0008t0001g0063 a0007c0008t0001g0064 a0008c0012t0010g0177 a0008c0012t0010g0178 a0008c0013t0008g0065 a0008c0013t0008g0066 a0009c0010t0001g0028 a0010c0016t0006g0049 a0011c0014t0017g0081 a0011c0014t0018g0080 a0012c0017t0009g0115 a0013c0020t0001g0101 a0014c0019t0001g0099 a0015c0028t0002g0159 a0016c0021t0001g0129 a0017c0027t0002g0155 a0018c0026t0014g0082 a0019c0018t0019g0152	372	388	0.9588	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9					chr11	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	208	378	0.5503	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0014 a0017 a0018 a0021 a0022 a0023 a0025 a0028	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0014c0025 a0017c0031 a0018c0020 a0021c0022 a0022c0030 a0023c0033 a0025c0023 a0028c0032	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0014c0025t0007 a0017c0031t0001 a0018c0020t0014 a0021c0022t0001 a0022c0030t0007 a0023c0033t0006 a0025c0023t0007 a0028c0032t0012	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0006g0082 a0001c0001t0006g0153 a0001c0001t0006g0195 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0017g0057 a0001c0001t0018g0121 a0001c0001t0020g0144 a0001c0019t0001g0073 a0001c0019t0001g0074 a0001c0035t0001g0069 a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 a0006c0009t0007g0207 a0006c0009t0007g0208 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0015t0001g0022 a0006c0015t0001g0206 a0007c0007t0006g0004 a0007c0007t0006g0155 a0007c0007t0006g0252 a0007c0007t0006g0254 a0007c0007t0012g0253 a0007c0007t0013g0039 a0007c0007t0013g0040 a0007c0007t0014g0154 a0010c0011t0001g0157 a0010c0011t0001g0163 a0010c0011t0001g0193 a0010c0011t0001g0262 a0010c0011t0001g0290 a0013c0016t0001g0032 a0013c0016t0001g0034 a0014c0025t0007g0249 a0017c0031t0001g0158 a0018c0020t0014g0251 a0021c0022t0001g0081 a0022c0030t0007g0162 a0023c0033t0006g0246 a0025c0023t0007g0189 a0028c0032t0012g0194	141	370	0.3811	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0007 a0014 others(3): Show a0002 a0007 a0014 a0023 a0024 a0025	a0002c0004 a0002c0005 a0002c0007 others(13): Show a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0012 a0002c0013 a0002c0019 a0002c0020 a0002c0025 a0007c0031 a0007c0032 a0007c0035 a0014c0018 a0023c0034 a0024c0030 a0025c0033	a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 others(13): Show a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0002c0012t0001 a0002c0013t0001 a0002c0019t0001 a0002c0020t0001 a0002c0025t0001 a0007c0031t0001 a0007c0032t0001 a0007c0035t0001 a0014c0018t0002 a0023c0034t0001 a0024c0030t0001 a0025c0033t0001	a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0179 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0199 a0002c0004t0001g0211 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0231 a0002c0004t0001g0233 a0002c0004t0001g0234 a0002c0004t0001g0245 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0005t0001g0181 a0002c0005t0001g0185 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0200 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0217 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0235 a0002c0005t0001g0239 a0002c0005t0001g0240 a0002c0005t0001g0241 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0265 a0002c0005t0001g0268 a0002c0007t0001g0006 a0002c0007t0001g0201 a0002c0007t0001g0202 a0002c0007t0001g0203 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0208 a0002c0007t0001g0209 a0002c0007t0001g0210 a0002c0007t0001g0227 a0002c0007t0001g0255 a0002c0007t0001g0256 a0002c0007t0001g0257 a0002c0007t0001g0258 a0002c0011t0001g0005 a0002c0011t0001g0204 a0002c0011t0001g0205 a0002c0012t0001g0180 a0002c0012t0001g0194 a0002c0012t0001g0195 a0002c0012t0001g0228 a0002c0013t0001g0191 a0002c0013t0001g0192 a0002c0013t0001g0262 a0002c0019t0001g0189 a0002c0019t0001g0249 a0002c0020t0001g0218 a0002c0020t0001g0238 a0002c0025t0001g0008 a0007c0031t0001g0237 a0007c0032t0001g0236 a0007c0035t0001g0193 a0014c0018t0002g0232 a0014c0018t0002g0264 a0023c0034t0001g0266 a0024c0030t0001g0216 a0025c0033t0001g0172	101	296	0.3412	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88					chr2	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0010 a0004c0007t0001 a0001c0001t0001 a0001c0001t0010 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0010g0317 a0004c0007t0001g0367	64	396	0.1616	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
APOL4_chr22_36184128_36206809	36191797	ACT ACT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(2): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0002c0010	a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 others(13): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0003t0003 a0002c0003t0011 a0002c0003t0019 a0002c0003t0020 a0002c0003t0021 a0002c0003t0022 a0002c0005t0005 a0002c0005t0016 a0002c0005t0030 a0002c0009t0003 a0002c0010t0003	a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 others(63): Show a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0093 a0002c0002t0002g0101 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0147 a0002c0002t0002g0158 a0002c0002t0023g0074 a0002c0002t0029g0090 a0002c0002t0031g0083 a0002c0002t0032g0141 a0002c0003t0003g0004 a0002c0003t0003g0009 a0002c0003t0003g0047 a0002c0003t0003g0092 a0002c0003t0003g0096 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0103 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0139 a0002c0003t0003g0148 a0002c0003t0003g0164 a0002c0003t0011g0037 a0002c0003t0011g0172 a0002c0003t0019g0064 a0002c0003t0020g0098 a0002c0003t0021g0112 a0002c0003t0022g0086 a0002c0005t0005g0007 a0002c0005t0005g0031 a0002c0005t0005g0046 a0002c0005t0005g0063 a0002c0005t0005g0138 a0002c0005t0005g0159 a0002c0005t0005g0162 a0002c0005t0005g0184 a0002c0005t0005g0185 a0002c0005t0016g0053 a0002c0005t0030g0109 a0002c0009t0003g0019 a0002c0009t0003g0179 a0002c0010t0003g0020	129	432	0.2986	-2	c.323 others(9): Show c.323_324delAG	p.Glu others(5): Show p.Glu108fs	APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	4/4	399/3069	323/1047	108/348		chr22	TogoVar
ARL9_chr4_56500791_56529453	56505976	TAAAC TAAAC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02523.hp2 HG02559.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0001 a0003c0003t0004 a0003c0007t0001 a0003c0003t0001 a0003c0003t0004 a0003c0007t0001	a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0244 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0273 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0007t0001g0023 a0003c0007t0001g0158 a0003c0007t0001g0192 a0003c0007t0001g0198 a0003c0007t0001g0235 a0003c0007t0001g0259	61	414	0.1473	-4	c.118 others(11): Show c.118_121delCAAA	p.Gln others(4): Show p.Gln40fs	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	190/1447	118/798	40/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0112 a0001c0001t0003g0179 a0001c0001t0004g0040 a0001c0001t0006g0028 a0001c0001t0006g0110 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0007g0002 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0010g0080 a0001c0001t0010g0125 a0001c0001t0010g0148 a0001c0001t0010g0242 a0001c0001t0010g0247 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0012g0127 a0001c0001t0012g0134 a0001c0001t0012g0152 a0001c0001t0014g0001 a0001c0001t0014g0072 a0001c0001t0014g0090 a0001c0001t0015g0057 a0001c0001t0015g0063 a0001c0001t0019g0170 a0001c0001t0020g0173 a0001c0001t0021g0029 a0001c0001t0023g0059 a0001c0001t0024g0009 a0001c0001t0028g0011 a0001c0001t0029g0255 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0017g0043 a0001c0002t0018g0044 a0001c0002t0022g0067 a0001c0003t0004g0049 a0001c0004t0007g0164 a0001c0006t0006g0178 a0001c0007t0004g0033 a0001c0008t0003g0085 a0001c0011t0002g0143 a0002c0012t0006g0169	173	352	0.4915	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATAD3C_chr1_1444689_1475163	1459159	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0118 a0002c0002t0012g0118	1	408	0.0025	0	c.742 others(5): Show c.742-2A>T		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	8/11					chr1	TogoVar
BTN3A2_chr6_26360198_26383312	26368051	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03669.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18976.hp1 NA18983.hp1 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0003 a0004c0005t0049 a0005c0006t0003 a0004c0005t0003 a0004c0005t0049 a0005c0006t0003	a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 a0004c0005t0003g0056 a0004c0005t0049g0001 a0005c0006t0003g0001 a0005c0006t0003g0029 a0005c0006t0003g0057 a0005c0006t0003g0058	35	380	0.0921	0	c.-6+ others(4): Show c.-6+1G>A		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	2/10					chr6	TogoVar
C16orf89_chr16_5039122_5070956	5057216	AACAGAGT others(4189): Show AACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAGGAAAAGAAATAT ACATATATATATGTATATATATATGTGTATATATATATATAGTGGTATAT ATATACATAGTGGTGTATATATATAGTGGTATATATAGTGATTATATATA TCGTGATATATATATAGTGGTATATATATAGTGGTATATATATAGTGGCA TATATATATAGTGTGTATGGTAGTATATATATAAAGAAAAGAAATATATA TACTGGTGTGTGTGTATATATATATATATGCCACCATATATATATTTTTC TTTTTCTATTTTTTTATATGTATATATATAGAGAGCGGCATATATATATA TAGTGGCATATATAATGTAGTAGCATGATCTCAGCTCACTACAGCCTCTG CCTCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAA TTACAGGTGCATGCCACTATGCCCGACTAATTTTTGTATTTTTAGTAGAG ACGGGATTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAG TGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCCTCATTCATTTGTTTTTGTTTACAGAGTTCTTTCTGAT GATTCTCTTTTATTCTCTCTTTCTCTCTCTCGTTGTGTTTTTCTGATGCC CTACAGTCCAGTTCAGCAGGCAAAGCTATCTGTTTCACTGGCCTAACAGA ATCCCAAATGCCAGATCCCAAATCGGCTCAATTACACAGCAGGAGTATGA TAGGGGCCCTACTTCTCCCTCCTGAGGTCCCAAGTAGAAATCCAAAGCTC TGCTTATTTTCCTGGTGTGTAGCAGACAGAACTACACTGCCATGAGCCCT TTTTCATTTATTTCTTTTTTCTTTTTTTTTGAGGCAGAGTCTTAGTCCAT TGCCTGGGCTGGAGTGCAGTGGCGCAATCTTACTCACTGCAACCTCCGCC TCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCTCTTGTAGCTGGGAT TACAGGTGCACGCCACCACGTCCAGCTAATTTTTTTTTTGTATTTTTAGT AGAGAATGGGTTTCACCATGTTGGCCCAGCTGGTTTTGAACTCCTGGCCT CAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTTGGATTACAGGCATG AGCCACCACGTCCGGCTGCCCCTTTTCCTTTTTCCTTCCCCTTCCCCTGG CACGGCGGGGGCTCCCTGGGCACTCACCATTCTGGCCCAGAGGAAGAAGA GCAGTTGGTGGGACAGGCAGTAGCCTGAGCAGCCGGGCTTGGTCATGAGG CTCCTGCAGAGGTCTGAGAGGCCGCAGGGCTCGCTGCTGTCCGTCCTGGG GGAAAGTGGTTCCAAGCTGTTAAGGATGGAGCGCTGACTCTGCCCTGCGT CTTCCCAGCCCCCTAGTTGTAGTTGTTGGAACTCCCAGTAGATTCCAGAC ACCCAGCTGGGCATGGGGGTTGACAGAGACAATACAGCAGTCCTGCATTT TGATTTGCTAAATCTGGCTGCCCTAGCCCAGGAAAGATGACGCTAGAGCT ATTCTGGGGTTGAGGAAGCCACCAAGGCTGAAACTTCCTATTGCTCCATG GGCCAAATCACATCTTTTCCAGCCCCGAACAGTGGGTACTTGAACCCAGA CCACTTGGAATCTGGGCCCAACATGCTTATTCCTCCTGCACCAGCCAGGC GCGGTGGCTTACACCTATAATTCTAGCACTTTGGGAGGCTGAGGCAGGCA AGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC CCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGAATC ACTTGAATCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCATCACTGC ACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTCAAAATAAATAAATAA AAATAAAATAAAATAAAGTAAAAATAAAAAATACACACACAAATACAAAA ATTAGCCGGGCATGGTGGCGCACATCTGTAATCCCAGCTACTCAGGAGGC TGAGGCATGAGAATCACTTGAACCTGGTAGGAGGAGCTTGCAGTGAGCCG AGAAAGAACACACCACTGCACTCCAGCCTGGGGGACAGTGAGCCTCTGTC TCAAAAAAATAAAAATAAATAAAAATTTTTAAAAAGCAGAGGTCCTTGGC TGGGGCCCAGCCCCTCCGTGAATCCAGCTGTGTCCTGGCCTAAGCACTGC TCTGAAGGATGCTGACAGGATGCGGCCTGGGCACCGGCTGCCCACTTTGC CCATGGGCCCTGCACCTAGGGCTGCCCTGGGGCCTTGTTCCAAGCCCACC AAACACCAGGATAAAATGAGGAGCCCAGCTAGGCTCAGTCCTGTCTTCCT GGAGCTGCATCCTCACTGGGGATGGGGACAGGCTCATAATACAAATGTAA ATTGCATCTGTGGCTATAAGAGGTGCCAGGAGAGGCCCTCACAGGAGGTC TGCTATGTGCTGGGGTCAGAGATAGGATGGGGTTGGAGGTAGGATGCTGG CGCCAGCCCTGGAGGATGGGCAGACTTCCTGAGGCCCAGGGGGTGGAGTG GGTGGGGTGGGGGGAGCAAAGTCTTTGAAGTGGGAGGAAGCCTTGGAGAG TCTGAAAAGAGGCCTCTAGGGGCCTGGAGACTTGGAACTGCGGAGAGGAA TTGGGGATTTGTCCTGGGGCCTGGAGGTGGTGTGTTCAGCCATGGCTGCT GGAAGGCCTGCTGTGGCATGGGAGGCCAGCGGGCGGCTGGAGCAAGGGGG ACCCTGCTGGAGTAGGAGAGGGCAGTACCCGGCAGCTACAGGGAGCTGCA CCTGTGTCTGCACAAACCCCTGGCTTCAGCCCTAGGGCTTGGAGAAGGAG GAGCGGGACAGGACCAGCTGAGAACTAGTGCGTTTGGGTTTCCAGCAAAT AGGGCAAGTGCAGGGCCCACCCGGTTCCCAGCAGCTGCACCAGGCACACG TCACTTCTCTCCTCTGAGAATGAGTCCTGGGGCCCGAACGTGGGGTACAC CAAGGAGGCATCAGTGTGGATCCAGGCATGTGGGAGCTTCCAAAACCCGG GCTGGAGGGTCAGCTGGAACTCTGGCAGAGAGGACAGATAGATGGGGTGG GGTGTGGGGGTGACCCAGGAGCAGTGGGCCACCCTGGTGTCCCCACCTCC TCCTGCAGCCCTGCCCACTGGCAGGTGCAGCTCAGGGCTCTAAGCCCTGT CCCCTGGTCCCAGATTGGGTTTGAAACACTCAAGAAAGCTCCTTTTGCTT ATAAAACCATTTTTTCCCCTAATCAATAGGAACAGTGATGGGACGGGATT TGACTAAACCCACTGCATCCCATGGAAACCCCAGATAAATAAAAGGTTTA GTTTCCCAGGTGCAGGGCTCACGCCTGTCATCCCAGCACTTGGGGAGGCT AAGGAAGGAAGATCGCTTGAGGCCCAACGTTCAAGACCAGCCTAGGCAAC ATAGCAAGACTCTGTCTCCACAAAAATAAAAAAAGTAGCCAGGTGTGGTG GTGTGCACCTGTAGTCCCAGCTGAGGCAGGAAGGTTGCTTGAGTCTAGAA GTTGGAGAATGCAGTGAGCTATGATCAGCCTTTTTTTTTTTTTTTTTTTT TTTTAAGAGGCAGGGCCAAGAGCGGTGGCTCACGCCTATAATCCCAGCAC TTTCGGAAGCCAAGGCGGGCGAATCACTTGAGGTCAGGAGTTCAAGACCA GTCTGGCTAACACAGTGAAATCCCATCTCTACTAAAAATACAAAAAATTA GCTGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATAGCATGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGAT TGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGA AAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCC AGCTACTTGAGAGAGGCTAAAGCAGGAAAATCACTTGAACCCAGGTTGCA GAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show HG01255.hp1 NA18612.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18972.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19080.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0001 a0003c0007t0001 a0003c0004t0001 a0003c0007t0001	a0003c0004t0001g0033 a0003c0004t0001g0125 a0003c0004t0001g0131 others(6): Show a0003c0004t0001g0033 a0003c0004t0001g0125 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0140 a0003c0004t0001g0309 a0003c0007t0001g0120 a0003c0007t0001g0121	10	429	0.0233	-4196	c.359 others(16): Show c.359-976_628-1029del		C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	4/8					chr16	TogoVar
CBX6_chr22_38856422_38877216	38866881	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02895.hp1 HG03831.hp1 others(6): Show HG01109.hp1 HG02895.hp1 HG03831.hp1 NA18966.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA19011.hp2 NA19062.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 others(4): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0008 a0003c0004t0042 a0003c0006t0012 a0003c0006t0019	a0003c0004t0001g0032 a0003c0004t0002g0129 a0003c0004t0004g0043 others(4): Show a0003c0004t0001g0032 a0003c0004t0002g0129 a0003c0004t0004g0043 a0003c0004t0008g0067 a0003c0004t0042g0133 a0003c0006t0012g0127 a0003c0006t0019g0128	9	404	0.0223	1	c.566 others(4): Show c.566dupG	p.Ala others(5): Show p.Ala190fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	592/6052	566/1239	189/412		chr22	TogoVar
CBY2_chr13_45697320_45719559	45713882	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show HG00140.hp2 HG00597.hp2 HG01928.hp1 HG01943.hp2 HG02074.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02602.hp1 HG04184.hp1 HG04228.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0015 a0003c0019 a0003c0003 a0003c0015 a0003c0019	a0003c0003t0001 a0003c0015t0001 a0003c0019t0001 a0003c0003t0001 a0003c0015t0001 a0003c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 others(6): Show a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0056 a0003c0003t0001g0082 a0003c0003t0001g0102 a0003c0015t0001g0003 a0003c0019t0001g0003	36	438	0.0822	0	c.857 others(3): Show c.857C>A	p.Ser others(4): Show p.Ser286*	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	928/1605	857/1347	286/448		chr13	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0014t0001 a0006c0008t0001 a0007c0009t0001 a0008c0015t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0206 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0190 a0002c0002t0003g0192 a0002c0002t0003g0195 a0002c0002t0004g0187 a0003c0003t0001g0003 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0004c0007t0002g0121 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0005c0014t0001g0135 a0006c0008t0001g0165 a0007c0009t0001g0164 a0008c0015t0001g0193	79	217	0.3641	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CD207_chr2_70825211_70840816	70835707	G G	A A	stop_gained stop_gained	HIGH	NA18940.hp1 NA18944.hp1 NA18961.hp2 others(5): Show NA18940.hp1 NA18944.hp1 NA18961.hp2 NA18966.hp1 NA18989.hp2 NA19011.hp2 NA19081.hp1 NA19088.hp1	a0009 a0009	a0009c0017 a0009c0019 a0009c0036 a0009c0017 a0009c0019 a0009c0036	a0009c0017t0002 a0009c0019t0001 a0009c0036t0001 a0009c0017t0002 a0009c0019t0001 a0009c0036t0001	a0009c0017t0002g0023 a0009c0019t0001g0053 a0009c0019t0001g0127 others(1): Show a0009c0017t0002g0023 a0009c0019t0001g0053 a0009c0019t0001g0127 a0009c0036t0001g0126	8	442	0.0181	0	c.70C others(2): Show c.70C>T	p.Arg others(3): Show p.Arg24*	CD207	ENSG00000116031.9	transcript	ENST00000410009.5	protein_coding	1/6	110/1866	70/987	24/328		chr2	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0136 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 a0004c0004t0001g0031 a0004c0004t0001g0167	118	339	0.3481	2	c.647 others(13): Show c.647-4_647-3dupTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH15_chr16_89166748_89200492	89195074	C C	A A	stop_gained stop_gained	HIGH	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(38): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02300.hp2 HG03139.hp2 HG03491.hp1 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18949.hp1 NA18950.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19084.hp2	a0004 a0005 a0020 others(2): Show a0004 a0005 a0020 a0021 a0023	a0004c0005 a0004c0019 a0005c0006 others(3): Show a0004c0005 a0004c0019 a0005c0006 a0020c0036 a0021c0045 a0023c0037	a0004c0005t0001 a0004c0019t0005 a0005c0006t0001 others(3): Show a0004c0005t0001 a0004c0019t0005 a0005c0006t0001 a0020c0036t0001 a0021c0045t0001 a0023c0037t0001	a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 others(28): Show a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0166 a0004c0005t0001g0254 a0004c0005t0001g0255 a0004c0005t0001g0256 a0004c0005t0001g0290 a0004c0005t0001g0291 a0004c0005t0001g0292 a0004c0005t0001g0293 a0004c0019t0005g0288 a0004c0019t0005g0289 a0005c0006t0001g0013 a0005c0006t0001g0014 a0005c0006t0001g0036 a0005c0006t0001g0160 a0005c0006t0001g0161 a0005c0006t0001g0162 a0005c0006t0001g0167 a0005c0006t0001g0169 a0005c0006t0001g0170 a0005c0006t0001g0257 a0020c0036t0001g0168 a0021c0045t0001g0106 a0023c0037t0001g0156	41	404	0.1015	0	c.236 others(4): Show c.2364C>A	p.Tyr others(4): Show p.Tyr788*	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	14/14	2448/2866	2364/2445	788/814		chr16	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0065 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0003t0001g0002 a0001c0003t0001g0040 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0002g0012 a0001c0003t0002g0037 a0001c0003t0002g0066 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0033 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0005t0001g0003 a0001c0005t0001g0015 a0001c0005t0001g0023 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0062 a0001c0006t0001g0018 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0007t0002g0034 a0001c0007t0002g0070 a0001c0009t0002g0073 a0001c0010t0002g0075	211	404	0.5223	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CEL_chr9_133056981_133076861	133071403	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00558.hp1 HG01109.hp2 others(12): Show HG00544.hp2 HG00558.hp1 HG01109.hp2 HG01169.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 HG02258.hp2 HG02523.hp2 HG02970.hp1 NA18942.hp1 NA18964.hp1 NA19011.hp1 NA19011.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0002t0001g0002 a0005c0007t0001g0025 a0007c0010t0001g0003	15	410	0.0366	-32	c.190 others(41): Show c.1909_1940delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val637fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1931/2381	1909/2262	637/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071468	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02523.hp2 HG02602.hp1 HG02970.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18943.hp1 NA18995.hp2 NA19011.hp2 NA19065.hp1 NA19072.hp1 NA19077.hp2 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0086 a0005c0007t0001g0025	23	334	0.0689	1	c.197 others(5): Show c.1974dupC	p.Val others(5): Show p.Val659fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1997/2381	1975/2262	659/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0022 a0002c0004 a0002c0013 a0007c0010 a0011c0012 a0014c0014 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0017t0001 a0001c0022t0001 a0002c0004t0001 a0002c0013t0001 a0007c0010t0001 a0011c0012t0001 a0014c0014t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0003t0001g0013 a0001c0009t0001g0030 a0001c0017t0001g0001 a0001c0022t0001g0001 a0002c0004t0001g0037 a0002c0013t0001g0036 a0007c0010t0001g0003 a0011c0012t0001g0080 a0014c0014t0001g0064 a0018c0023t0001g0040	181	409	0.4425	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071600	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0009t0001g0030 a0001c0017t0001g0001	47	408	0.1152	1	c.210 others(5): Show c.2106dupC	p.Val others(5): Show p.Val703fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2129/2381	2107/2262	703/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0014 others(5): Show a0001 a0009 a0014 a0015 a0017 a0020 a0021 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0014c0015 a0015c0024 a0017c0027 a0020c0018 a0021c0028 a0023c0017	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0014c0015t0001 a0015c0024t0001 a0017c0027t0001 a0020c0018t0001 a0021c0028t0001 a0023c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0014c0015t0001g0046 a0015c0024t0001g0107 a0017c0027t0001g0153 a0020c0018t0001g0096 a0021c0028t0001g0102 a0023c0017t0001g0136	175	482	0.3631	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTLN_chr9_17130040_17508923	17457514	TA TA	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026	a0001c0001 a0001c0004 a0001c0014 others(31): Show a0001c0001 a0001c0004 a0001c0014 a0001c0016 a0001c0023 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0047 a0001c0055 a0002c0006 a0002c0008 a0002c0013 a0003c0002 a0003c0052 a0004c0003 a0004c0020 a0005c0005 a0006c0007 a0006c0043 a0008c0010 a0008c0053 a0009c0009 a0010c0012 a0015c0034 a0016c0038 a0017c0032 a0018c0042 a0019c0045 a0020c0040 a0024c0051 a0025c0054 a0026c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0014t0001 a0001c0016t0001 a0001c0023t0003 a0001c0023t0012 a0001c0027t0004 a0001c0028t0004 a0001c0029t0001 a0001c0030t0002 a0001c0047t0001 a0001c0055t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0009 a0002c0013t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0052t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0009 a0004c0020t0005 a0005c0005t0001 a0006c0007t0002 a0006c0007t0006 a0006c0007t0014 a0006c0007t0015 a0006c0043t0002 a0008c0010t0002 a0008c0010t0004 a0008c0053t0002 a0009c0009t0002 a0009c0009t0008 a0010c0012t0002 a0010c0012t0003 a0015c0034t0001 a0016c0038t0001 a0017c0032t0001 a0018c0042t0002 a0019c0045t0002 a0020c0040t0002 a0024c0051t0013 a0025c0054t0002 a0026c0024t0003	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0204 a0001c0001t0007g0175 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0023 a0001c0004t0002g0002 a0001c0004t0002g0017 a0001c0004t0003g0003 a0001c0014t0001g0038 a0001c0016t0001g0128 a0001c0016t0001g0129 a0001c0016t0001g0177 a0001c0023t0003g0166 a0001c0023t0012g0168 a0001c0027t0004g0161 a0001c0028t0004g0028 a0001c0029t0001g0202 a0001c0030t0002g0048 a0001c0047t0001g0123 a0001c0055t0001g0021 a0002c0006t0001g0076 a0002c0008t0001g0026 a0002c0008t0001g0027 a0002c0008t0001g0035 a0002c0008t0001g0037 a0002c0008t0001g0039 a0002c0008t0001g0040 a0002c0008t0009g0034 a0002c0013t0001g0045 a0003c0002t0001g0051 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0071 a0003c0002t0001g0211 a0003c0002t0002g0065 a0003c0002t0002g0074 a0003c0002t0016g0070 a0003c0052t0002g0167 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0146 a0004c0003t0001g0149 a0004c0003t0001g0152 a0004c0003t0001g0159 a0004c0003t0001g0192 a0004c0003t0001g0193 a0004c0003t0001g0212 a0004c0003t0001g0217 a0004c0003t0002g0148 a0004c0003t0002g0187 a0004c0003t0003g0136 a0004c0003t0004g0180 a0004c0003t0009g0134 a0004c0020t0005g0145 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0006c0007t0002g0077 a0006c0007t0002g0078 a0006c0007t0002g0079 a0006c0007t0002g0085 a0006c0007t0002g0086 a0006c0007t0002g0199 a0006c0007t0006g0080 a0006c0007t0014g0087 a0006c0007t0015g0083 a0006c0043t0002g0081 a0008c0010t0002g0001 a0008c0010t0002g0049 a0008c0010t0002g0206 a0008c0010t0004g0207 a0008c0053t0002g0004 a0009c0009t0002g0154 a0009c0009t0002g0157 a0009c0009t0002g0208 a0009c0009t0008g0153 a0010c0012t0002g0018 a0010c0012t0002g0019 a0010c0012t0002g0020 a0010c0012t0003g0025 a0015c0034t0001g0088 a0016c0038t0001g0151 a0017c0032t0001g0066 a0018c0042t0002g0084 a0019c0045t0002g0046 a0020c0040t0002g0147 a0024c0051t0013g0047 a0025c0054t0002g0016 a0026c0024t0003g0024	137	215	0.6372	-1	c.311 others(7): Show c.3115-2delA		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25				INFO_REALIGN_3_PRIME	chr9	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0129 a0001c0001t0003g0188 a0001c0001t0003g0202 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0012g0182 a0001c0001t0013g0134 a0001c0001t0014g0168 a0001c0001t0015g0201 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0006g0341 a0002c0002t0007g0325 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0176	134	368	0.3641	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COL14A1_chr8_120120102_120378573	120280903	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show HG02027.hp1 HG02293.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp2 NA18906.hp2 NA18959.hp2 NA19011.hp2 NA19043.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0037 a0014c0035	a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0002c0037t0011 a0014c0035t0001	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 others(10): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0143 a0001c0001t0020g0208 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0177 a0002c0002t0002g0163 a0002c0006t0002g0024 a0002c0037t0011g0012 a0014c0035t0001g0110	13	95	0.1368	1	c.368 others(7): Show c.3686-3dupT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	30/47				INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE1_chr20_35621044_35669900	35627312	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18979.hp1 NA18988.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0011t0001g0077	46	270	0.1704	1	c.120 others(5): Show c.1203dupT	p.Ala others(5): Show p.Ala402fs	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/16	1344/1952	1203/1614	401/537		chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0009 a0008c0010 a0010c0013 a0011c0014 a0012c0018 a0014c0020 a0016c0019 a0017c0021 a0018c0022	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0009t0001 a0007c0009t0002 a0008c0010t0002 a0010c0013t0002 a0011c0014t0001 a0012c0018t0002 a0014c0020t0001 a0016c0019t0001 a0017c0021t0002 a0018c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0002g0375 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0200 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0235 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0002g0261 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0309 a0001c0004t0002g0320 a0001c0004t0002g0321 a0001c0004t0002g0323 a0001c0004t0002g0326 a0001c0004t0002g0342 a0001c0004t0002g0344 a0001c0004t0002g0373 a0001c0004t0002g0374 a0001c0012t0001g0043 a0001c0012t0001g0044 a0001c0017t0001g0225 a0005c0007t0002g0283 a0005c0007t0002g0301 a0005c0007t0002g0315 a0005c0007t0002g0316 a0005c0007t0002g0318 a0005c0007t0002g0319 a0005c0007t0002g0329 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0002g0270 a0008c0010t0002g0291 a0008c0010t0002g0292 a0008c0010t0002g0295 a0010c0013t0002g0274 a0010c0013t0002g0328 a0011c0014t0001g0123 a0011c0014t0001g0124 a0012c0018t0002g0339 a0014c0020t0001g0195 a0016c0019t0001g0234 a0017c0021t0002g0287 a0018c0022t0001g0210	242	384	0.6302	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734		chr3	TogoVar
CST11_chr20_23445412_23457876	23452607	G G	A A	stop_gained stop_gained	HIGH	NA18952.hp1 NA18978.hp2 NA18980.hp2 others(1): Show NA18952.hp1 NA18978.hp2 NA18980.hp2 NA19011.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0014 a0002c0004t0001g0014	4	444	0.0090	0	c.205 others(3): Show c.205C>T	p.Arg others(3): Show p.Arg69*	CST11	ENSG00000125831.10	transcript	ENST00000377009.8	protein_coding	1/3	270/576	205/417	69/138		chr20	TogoVar
CXorf51A_chrX_146809106_146819744	146811328	AGGTTTGT others(3365): Show AGGTTTGTAAGAATGGAATCATAAGATATGTACTCTTTATTTTTTTCTAG TCCAGCTTCTTAGAACAACTATCTTTCCTTCCCAAAGATATTTTGTTTTG TTGGTCTGCTTTTTAAAAGATTGCTGTGGTCAATACGTTTTAATCATGTG TCTACGGGAGTGGTCTTAAAACAGCACAATTTCTCATTATATTTTAATGA ATACTTATTGTATTCTACAAGGAAATTCATGCAGATAATTTCCTGTTATA CCATTGGCCTCAGGTATCACCTGACTCAGTTGTTGCTGTTTCTTTCTAAA GCAAGCTCCTAAGGATGTGGTATTTCTTGCAGTGCACTTTGGGCCATAAG CCATGGTCCTGTATGACACACATACACCAGCATTTAAACAATATTTCTAA AACAATAATAGTACAGTCATTGATTTTAAAATAAAGGAATAAATAATCTG AGTTTTTCCTGTGCTGTCATTCCATGTGACCACTTGTTTGGATGATGCCT AAGTTAATAAAACAAAGTATGAATGGCAAGGTATAAATGTTTGAGAAGTT CAAATCTTTACTTCATTTCAACAAAAAATACTTTGTAAAATTGAACTATA TCTCTAAAAGTAAAATTTATTCTTCTTTAATTGTTTAATAGTTATTTTAG AACTACAGACCAATTCAAGGAAATCAAATGTTACATATGTGGATAATTTA TTAATTGACTAATTTGTCCCTTCTGCATAATTTTTGGTTTTCTTAAAGTA CCATTTTATATGTTACTTTATATATGTGTATATACACATATATATGTATA TATATACACATATATACACGTGTATATATGTATGTACACATATATGTATA TACACACATATATACACACATATATGTACACATATATGTGTGTATATACG TATATACACATGTGTATATACGTATATACACATATATGTATATACACACA TATATACACACACATATGTACACATATATGTGTACATATATGTGTGTATA TATGTGTGTATATACATATATGTGTACATACATATATACACGTGTATATA TGTGTATATATATACATATATATGTGTATATACACATATATAAAGTAACA TATAAAATGGTACTTTAAGAAAACCAAAAATTATGCAGAAGGGACAAATT AGTCAATTAATAAATTATCCACATATGTAACATTTGATTTCCTTGAATTG GTCTGTAGTTCTAAAATAACTATTAAACAATTAAAGAAGAATAAATTTTA CTTTTAGAGATATAGTTCAATTTTACAAAGTATTTTTTGTTGAAATGAAG TAAAGATTTGAACTTCTCAAACATTTATACCTTGCCATTCATACTTTGTT TTATTAACTTAGGCATCATCCAAACAAGTGGTCACATGGAATGACAGCAC AGGAAAAACTCAGATTATTTATTCCTTTATTTTAAAATCAATGACTGTAC TATTATTGTTTTAGAAATATTGTTTAAATGCTGGTGTATGTGTGTCATAC AGGACCATGGCTTATGGCCCAAAGTGCACTGCAAGAAATACCACATCCTT AGGAGCTTGCTTTAGAAAGAAACAGCAACAACTGAGTCAGGTGATACCTG AGGCCAATGGTATAACAGGAAATTATCTGCATGAATTTCCTTGTAGAATA CAATAAGTATTCATTAAAATATAATGAGAAATTGTGCTGTTTTAAGACCA CTCCCGTAGACACATGATTAAAACGTATTGACCACAGCAATCTTTTAAAA AGCAGACCAACAAAACAAAATATCTTTGGGAAGGAAAGATAGTTGTTCTA AGAAGCTGGACTAGAAAAAAATAAAGAGTACATATCTTATGATTCCATTC TTACAAACCTCCAGAAAATAGAAACAGATAGTGACAGAAAGCAAATCAGC GGGTTTTTTTGAGAATGATGGTGGAGGTAGGGACAGGGAAGAATTGCCAA ACGGCATGAGAAAACTTTAGGGGGTAATGGGTATGTTCACTCTTATAGTT GTGATGGTTTAACAAGAGCAGATGTGACAAAACTCATCAAACTGTATACT TTTTAAGCATGTGCAGTTTGTCATATGTCAATTATACTTCAGTAAAGCTG TTGAAAAATGATATTCTCTTTAGGGATAAAAACAACTTTGGAAAAATAAA AATAAAAGACGGAGAGAGAGAGCTATCTTGTTTTAAAATTCTCTGTAGAC AATGCTCTCATTCACTGCCCGCACTAGAGGTAGACCACTCCCATTGCCCT GCCCCGCCCTAAGCTTTTTAAGAAGGTGGGCTAGTCAGTGTTGGATTTGT GGCATCTAGTAACCATTATTTCAGGTGCTGCTGGTAACTTTTAGAGATAT TTGGCCCTTTGAAGGGCATTTAGTTGCTTATATCATAGGGTGGGGTGTAC CTCATACCTACCATTATGAGGTAGATGGCCTGCAGGTTATCTCTTGTCTG TTTTTGGGGATAGTACTGCCACCCACACACCTCACCCCATACAGGTTCTG ACAATCAATACACTGAAGTCACATCCCTCTTTCCCCACCAAAACACACAC AGGTAGAAACACCAACCCCTTTCACTCTTTGTGTATTAAAAAGTGTTCAG GAAATTTATCTTCAGTGCTTAGTCCTGAGCCAGTCCTTATCCCCCCAGTT TCCAGCTGTGGACCTGTTGGTCTGGCCTCAAACCCCACAGAAGCCACCTC CCTGCCTTCTCACACACACCTCCCTCTTCCCCTCACTCCTTCCTTCCTCA CCATCAGAGAAGTCACAGAGACATATCCTTTCGATTCAGGTTGATTTTAT TTTCATGGTTTTAACCTGTTGGTGTAGAATTCACTGACTGTATGATTGAT GACTTTTCAGTGGCGGACCTCTAGAGACATCACAGAACTGAGGTCTCGCT TTGCTCTTTGTCGGCCTCTTCTTTCTTCATTTTTTCTTTCAGCCGGTGAT AACGACCACGCAGTATTGGTCCTCTAGCTTTCTTAGGTTTTCCTGCAGGG GTGTTAGTTTCACCGGCTTTTTGGCTCGAGCTCCCTCGAAGGGGTCTTTT CGCCTTCCTGGTGGTCTTTAGGCCCTACAGGGAGATCACAGTCAGGCCAG AGGGCGTTGGTTTTGGGAAAGAAGGTGGGAAATGCATAGGAATAGGCTTC ATGAGAAGGGTGTGAGTTGAGGAGGGGGTTTGAGTGAGGCAAGGAAAGGA TAGGAGTCTTGGGGTGGCGGAATCAGTGGGGCAAAGAGAAGGGGTTTGGT CGGGATCATCTCACCTTAACGCCGCTTCTGGACCTTCGTTGACGGGGTGT CTTCCCCTTCTTCCTCCCTTTGGTACTTGAGGTTGATGGGGTCTGTTCGT CCACATCTTCATTAGGCTTCTGT	A A	exon_loss_variant exon_loss_variant	HIGH	HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show HG01071.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp1 NA18940.hp1 NA18951.hp1 NA18970.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	264	0.0492	-3372	c.24_ others(8): Show c.24_*2878del		CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding	2/2					chrX	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP2C18_chr10_94678729_94741190	94687805	T T	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show HG01884.hp1 HG02258.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03831.hp2 HG04204.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18979.hp1 NA18993.hp2 NA19001.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0010 a0003c0003 a0003c0007 a0003c0010	a0003c0003t0001 a0003c0003t0006 a0003c0007t0001 others(1): Show a0003c0003t0001 a0003c0003t0006 a0003c0007t0001 a0003c0010t0010	a0003c0003t0001g0048 a0003c0003t0001g0236 a0003c0003t0006g0014 others(13): Show a0003c0003t0001g0048 a0003c0003t0001g0236 a0003c0003t0006g0014 a0003c0003t0006g0023 a0003c0003t0006g0049 a0003c0003t0006g0237 a0003c0003t0006g0238 a0003c0003t0006g0239 a0003c0003t0006g0240 a0003c0003t0006g0241 a0003c0003t0006g0242 a0003c0003t0006g0243 a0003c0003t0006g0244 a0003c0007t0001g0050 a0003c0007t0001g0252 a0003c0010t0010g0245	24	376	0.0638	0	c.204 others(3): Show c.204T>A	p.Tyr others(3): Show p.Tyr68*	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	2/9	295/2310	204/1473	68/490		chr10	TogoVar
CYP2C19_chr10_94757681_94860547	94780653	G G	A A	stop_gained stop_gained	HIGH	HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show HG03490.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18979.hp2 NA18993.hp1 NA19001.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19089.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0002 a0003c0004t0006g0003 a0003c0004t0006g0031 others(10): Show a0003c0004t0006g0002 a0003c0004t0006g0003 a0003c0004t0006g0031 a0003c0004t0006g0037 a0003c0004t0006g0038 a0003c0004t0006g0039 a0003c0004t0006g0040 a0003c0004t0006g0041 a0003c0004t0006g0042 a0003c0004t0006g0043 a0003c0004t0006g0044 a0003c0004t0006g0045 a0003c0004t0006g0046	17	362	0.0470	0	c.636 others(3): Show c.636G>A	p.Trp others(4): Show p.Trp212*	CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding	4/9	661/4131	636/1473	212/490		chr10	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0140 a0003c0003t0001g0167 a0003c0003t0001g0173 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0135 a0003c0003t0003g0202 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0018t0003g0007 a0003c0019t0003g0216	68	398	0.1709	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000	268	454	0.5903	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0007c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0001t0078 a0001c0002t0001 a0001c0002t0024 a0001c0002t0028 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0094 a0001c0004t0118 a0001c0004t0123 a0001c0008t0098 a0001c0024t0027 a0002c0022t0008 a0003c0007t0009 a0007c0023t0113	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0020g0296 a0001c0001t0029g0289 a0001c0001t0031g0039 a0001c0001t0031g0152 a0001c0001t0032g0042 a0001c0001t0032g0055 a0001c0001t0056g0046 a0001c0001t0058g0153 a0001c0001t0059g0314 a0001c0001t0060g0041 a0001c0001t0061g0284 a0001c0001t0062g0096 a0001c0001t0063g0154 a0001c0001t0064g0095 a0001c0001t0077g0057 a0001c0001t0078g0165 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0002t0028g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0025g0139 a0001c0003t0025g0186 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0094g0212 a0001c0004t0118g0013 a0001c0004t0123g0061 a0001c0008t0098g0195 a0001c0024t0027g0033 a0002c0022t0008g0161 a0003c0007t0009g0248 a0007c0023t0113g0156	69	83	0.8313	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(76): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0008c0019 a0011c0028 a0013c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0066 a0001c0002t0096 a0001c0002t0097 a0001c0002t0102 a0001c0003t0006 a0001c0003t0013 a0001c0003t0050 a0001c0003t0106 a0001c0003t0124 a0001c0004t0047 a0001c0004t0075 a0001c0006t0001 a0001c0006t0004 a0001c0006t0022 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0105 a0006c0017t0041 a0008c0019t0047 a0011c0028t0001 a0013c0030t0018	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(76): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0229 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0018g0126 a0001c0002t0018g0171 a0001c0002t0020g0124 a0001c0002t0020g0125 a0001c0002t0023g0119 a0001c0002t0066g0176 a0001c0002t0096g0060 a0001c0002t0097g0306 a0001c0002t0102g0185 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0050g0311 a0001c0003t0106g0133 a0001c0003t0124g0236 a0001c0004t0047g0112 a0001c0004t0075g0184 a0001c0006t0001g0105 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0106 a0001c0006t0022g0107 a0001c0006t0022g0108 a0001c0006t0022g0285 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0100 a0002c0005t0001g0101 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0116 a0002c0005t0001g0138 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0117 a0002c0005t0007g0045 a0002c0005t0007g0122 a0002c0005t0007g0128 a0002c0005t0007g0135 a0002c0005t0007g0137 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0105g0240 a0006c0017t0041g0121 a0008c0019t0047g0145 a0011c0028t0001g0054 a0013c0030t0018g0088	79	93	0.8495	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar

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