Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DHCR24_chr1_54844627_54892195	54868664	CATTAACA others(45): Show CATTAACAGTGATGGTTATGAAGGCAATGTAATAGTTCTAATAAAAGATG GAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(156): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0008t0001 a0002c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0202 a0001c0001t0001g0269 a0001c0001t0003g0012 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0165 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0007g0064 a0001c0001t0007g0068 a0001c0001t0007g0071 a0001c0001t0007g0075 a0001c0001t0012g0095 a0001c0001t0013g0024 a0001c0001t0014g0081 a0001c0001t0015g0276 a0001c0001t0015g0278 a0001c0001t0019g0062 a0001c0001t0021g0144 a0001c0002t0002g0091 a0001c0002t0002g0107 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0176 a0001c0002t0002g0229 a0001c0002t0003g0132 a0001c0002t0004g0201 a0001c0002t0005g0148 a0001c0002t0006g0005 a0001c0002t0006g0271 a0001c0002t0006g0272 a0001c0002t0006g0273 a0001c0002t0006g0277 a0001c0002t0016g0274 a0001c0008t0001g0117 a0002c0007t0001g0114	159	384	0.4141	-52	c.876 others(69): Show c.876+2634_876+2685delATCCATCTTTTATTAGAACTATTACATT GCCTTCATAACCATCACTGTTAAT	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	5/8			chr1	TogoVar
DHRS9_chr2_169064563_169101167	169079959	GAGAGAGA others(45): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	396	0.0025	-52	c.-59 others(69): Show c.-59-1560_-59-1509delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228377	GAGGAATG others(45): Show GAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAA GGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	44	0.0227	-52	c.805 others(69): Show c.805-7200_805-7149delTCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCATTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2485749	GGGAAGGA others(45): Show GGGAAGGAAGGGAGAGAAGGAAGGAAGGGAGAAAAGGGAGAGAAGGGAGA GAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0032 a0005c0008t0006g0032	1	29	0.0345	-52	c.109 others(71): Show c.109+15016_109+15067delTTCTCTCCCTTCTCTCCCTTTTCTCC CTTCCTTCCTTCTCTCCCTTCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962272	TACATATA others(45): Show TACATATATATATACATATATATATATACATATATATATACATATATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	145	0.0069	-52	c.193 others(71): Show c.1936-2791_1936-2740delTATATATATACATATATATATACACA TATATATATACATATATATATATACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	532634	AGAGAGAG others(45): Show AGAGAGAGTATGGGTGTGAGAGAGAGTATGGGTGTGAGAGAGAGTATGGG TGT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02040.hp1 HG02602.hp1 HG01258.hp1 HG02040.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0020t0008 a0001c0001t0001 a0001c0001t0003 a0001c0020t0008	a0001c0001t0001g0028 a0001c0001t0003g0008 a0001c0020t0008g0074 a0001c0001t0001g0028 a0001c0001t0003g0008 a0001c0020t0008g0074	3	88	0.0341	-52	c.86- others(69): Show c.86-46156_86-46105delACACCCATACTCTCTCTCACACCCATAC TCTCTCTCACACCCATACTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	671427	CGTCACAG others(45): Show CGTCACAGACGCACGGACGGAGGAAACAGACCACAGGCGCACGGACGGAG GAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	88	0.0114	-52	c.85+ others(69): Show c.85+18015_85+18066delTTCCTCCGTCCGTGCGCCTGTGGTCTGT TTCCTCCGTCCGTGCGTCTGTGAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978608	ATATATAT others(45): Show ATATATATCTATATCTATATATATATATATATCTATATATATATATATAT ATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03225.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG03225.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 others(1): Show a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0008g0169	4	326	0.0123	-52	c.657 others(69): Show c.657+5627_657+5678delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978622	CTATATAT others(45): Show CTATATATATATATATATCTATATATATATATATATATCTATATATAGAT ATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02083.hp1 HG02630.hp2 others(13): Show HG00642.hp1 HG02083.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03688.hp1 HG03831.hp1 NA18747.hp1 NA18951.hp1 NA18965.hp2 NA18975.hp2 NA18998.hp1 NA19006.hp2 NA19010.hp2 NA19066.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0011 a0001c0001 a0001c0003 a0002c0011	a0001c0001t0003 a0001c0001t0016 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0003t0003 a0001c0003t0021 a0002c0011t0001	a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0079 others(12): Show a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0079 a0001c0001t0016g0170 a0001c0001t0016g0194 a0001c0003t0003g0023 a0001c0003t0003g0030 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0068 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0086 a0001c0003t0021g0030 a0002c0011t0001g0150	16	376	0.0426	-52	c.657 others(69): Show c.657+5641_657+5692delATATATATATCTATATATATATATATAT ATCTATATATAGATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978630	ATATATAT others(45): Show ATATATATATCTATATATATATATATATATCTATATATAGATATATATAT ATC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0084 a0001c0003t0003g0084	1	403	0.0025	-52	c.657 others(69): Show c.657+5651_657+5702delCTATATATATATATATATATCTATATAT AGATATATATATATCTATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DISC1_chr1_231621790_232046272	231805568	ATGGTGCT others(45): Show ATGGTGCTAAATCATTAATGAGAAACTGCCCCTATGATCCAATCACCTTC CAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	38	0.0263	-52	c.179 others(71): Show c.1792+5463_1792+5514delTGGTGCTAAATCATTAATGAGAAACT GCCCCTATGATCCAATCACCTTCCAC	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11524928	TCTGTGCC others(45): Show TCTGTGCCCACTATCTCCCTCACCACCTCCCCCACCATCCCTGCCACCCC ATC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	356	0.0028	-52	c.247 others(69): Show c.2477-237_2477-186delTATCTCCCTCACCACCTCCCCCACCATC CCTGCCACCCCATCCTGTGCCCAC	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLC1_chr8_13078361_13519851	13506024	TGTCCTTT others(45): Show TGTCCTTTGAGAATACATGTGATACATATATGTGTGTGTGTATATATAAA GCA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01256.hp1 others(3): Show HG01071.hp1 HG01109.hp1 HG01256.hp1 HG02683.hp1 HG03486.hp1 HG03579.hp2	a0006 a0010 a0015 a0006 a0010 a0015	a0006c0007 a0006c0032 a0010c0022 others(2): Show a0006c0007 a0006c0032 a0010c0022 a0010c0048 a0015c0047	a0006c0007t0005 a0006c0032t0005 a0010c0022t0004 others(3): Show a0006c0007t0005 a0006c0032t0005 a0010c0022t0004 a0010c0022t0025 a0010c0048t0007 a0015c0047t0006	a0006c0007t0005g0158 a0006c0032t0005g0159 a0010c0022t0004g0187 others(3): Show a0006c0007t0005g0158 a0006c0032t0005g0159 a0010c0022t0004g0187 a0010c0022t0025g0186 a0010c0048t0007g0185 a0015c0047t0006g0161	6	210	0.0286	-52	c.-12 others(71): Show c.-125-5880_-125-5829delTGCTTTATATATACACACACACATAT ATGTATCACATGTATTCTCAAAGGAC	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	1/17			chr8	TogoVar
DLGAP1_chr18_3491032_4460307	3772342	CTCTCTCT others(45): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG02486.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0013 a0001c0004t0002 a0001c0006t0013	a0001c0004t0002g0035 a0001c0006t0013g0073 a0001c0004t0002g0035 a0001c0006t0013g0073	2	43	0.0465	-52	c.117 others(73): Show c.1173-29882_1173-29831delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(45): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG02155.hp1 others(5): Show HG01496.hp1 HG01981.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG03669.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0009 a0001c0002t0029 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0002t0029 a0001c0002t0030 a0001c0003t0002 a0001c0003t0011 a0001c0003t0028 a0001c0005t0017	a0001c0001t0005g0042 a0001c0001t0009g0020 a0001c0002t0029g0032 others(5): Show a0001c0001t0005g0042 a0001c0001t0009g0020 a0001c0002t0029g0032 a0001c0002t0030g0014 a0001c0003t0002g0009 a0001c0003t0011g0010 a0001c0003t0028g0036 a0001c0005t0017g0021	8	9	0.8889	-52	c.958 others(71): Show c.958-18909_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	882241	TCTGCGGA others(45): Show TCTGCGGAGGCCTCTCCTGCGGGCACCCGTGCCTGGCCCAGCGGCACCTC TCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0028 a0004c0008t0016g0028	1	40	0.0250	-52	c.19- others(69): Show c.19-25623_19-25572delTCTCCCTGCGGAGGCCTCTCCTGCGGGC ACCCGTGCCTGGCCCAGCGGCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	882337	CACCGCTC others(45): Show CACCGCTCCCTGCGGAGGCCTCCCCTGCGCGCACCCTCGCCTGATCCAGC GGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01361.hp2 others(8): Show HG00639.hp2 HG01071.hp2 HG01361.hp2 HG01496.hp1 HG02074.hp1 HG02258.hp2 HG02698.hp2 HG02818.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0004	a0001c0002t0006 a0001c0002t0022 a0001c0002t0023 others(8): Show a0001c0002t0006 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0006 a0001c0003t0013 a0001c0010t0025 a0002c0001t0011 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018	a0001c0002t0006g0011 a0001c0002t0022g0034 a0001c0002t0023g0005 others(8): Show a0001c0002t0006g0011 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0010t0025g0012 a0002c0001t0011g0002 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010	11	40	0.2750	-52	c.19- others(69): Show c.19-25571_19-25520delGCTCCCTGCGGAGGCCTCCCCTGCGCGC ACCCTCGCCTGATCCAGCGGTACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	882470	GGCACCCT others(45): Show GGCACCCTCGCCTGATCCAGCGGTACCTCTCCCTGCGGAGGCCTCCCCTG CGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02895.hp2 others(1): Show HG02647.hp1 HG02647.hp2 HG02895.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0007 others(1): Show a0001c0003 a0002c0001 a0002c0007 a0003c0005	a0001c0003t0017 a0002c0001t0002 a0002c0007t0008 others(1): Show a0001c0003t0017 a0002c0001t0002 a0002c0007t0008 a0003c0005t0002	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0007t0008g0040 others(1): Show a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0007t0008g0040 a0003c0005t0002g0030	4	23	0.1739	-52	c.19- others(69): Show c.19-25241_19-25190delCCCTGCGCGCACCCTCGCCTGATCCAGC GGTACCTCTCCCTGCGGAGGCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	965356	TGAGTCTG others(45): Show TGAGTCTGACCCCTGCGCTGTACACGGCACTGTTCATCACACACGCGGCT CCA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp2 HG01496.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0006 a0002c0004t0003 a0001c0003t0006 a0002c0004t0003	a0001c0003t0006g0033 a0002c0004t0003g0009 a0001c0003t0006g0033 a0002c0004t0003g0009	2	40	0.0500	-52	c.73+ others(69): Show c.73+57394_73+57445delTCTGACCCCTGCGCTGTACACGGCACTG TTCATCACACACGCGGCTCCAGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000015	CAGATCCG others(45): Show CAGATCCGGGTGGAGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCA GAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp1 NA20300.hp2 HG00639.hp1 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027	a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0027g0023	3	40	0.0750	-52	c.73+ others(69): Show c.73+92101_73+92152delGAGATCCGGGTGGAGGTGGTTTTCTTTT GCACTGGATTTTCTCTAGAGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000168	AGACAGAT others(45): Show AGACAGATCCGGGTGGAGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGA GCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02258.hp2 HG03516.hp2 HG01071.hp2 HG02258.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0011 a0001c0003t0001 a0001c0003t0006 a0002c0001t0011	a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0011g0002 a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0011g0002	3	40	0.0750	-52	c.73+ others(69): Show c.73+92212_73+92263delGGGTGGAGGTGGTTTTCTTTTGCACTGG ATTTTCTCTAGAGCGGACAGATCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1042803	GTGTGGGT others(45): Show GTGTGGGTGGTGGATGTGGGTGGTGGGTGTGGGTGGTGGGTGTGGGTGGT GGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG02818.hp1 HG01496.hp1 HG02698.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0027 a0002c0004t0003 a0002c0004t0018 a0001c0002t0027 a0002c0004t0003 a0002c0004t0018	a0001c0002t0027g0023 a0002c0004t0003g0009 a0002c0004t0018g0010 a0001c0002t0027g0023 a0002c0004t0003g0009 a0002c0004t0018g0010	3	40	0.0750	-52	c.73+ others(71): Show c.73+134850_73+134901delATGTGGGTGGTGGGTGTGGGTGGTGG GTGTGGGTGGTGGATGTGGGTGGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1089044	CATTCTTG others(45): Show CATTCTTGCTCCCCGGCCTCACTCTCTCCACCCCTCGTCCAGCAGGCTAT GCA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-52	c.74- others(71): Show c.74-169771_74-169720delGTCCAGCAGGCTATGCAATTCTTGCT CCCCGGCCTCACTCTCTCCACCCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1628354	GATTAAGA others(45): Show GATTAAGAGCTTGAGCCAACCTCACATTCTCTCTGACTTACTGTGGAGCA GGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-52	c.159 others(71): Show c.1590+1484_1590+1535delAACCTCACATTCTCTCTGACTTACTG TGGAGCAGGAATTAAGAGCTTGAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1628644	GTCTGACT others(45): Show GTCTGACTTACTGTGGAGCAGGAATTAAGAGCCTGAGCTGACCTCACATT CTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02895.hp1 others(2): Show HG02258.hp1 HG02258.hp2 HG02895.hp1 HG03486.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0005 a0001c0003t0001 a0001c0003t0006 a0002c0001t0005	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 others(2): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0002c0001t0005g0029 a0002c0001t0005g0035	5	40	0.1250	-52	c.159 others(71): Show c.1590+1831_1590+1882delAATTAAGAGCCTGAGCTGACCTCACA TTCTCTCTGACTTACTGTGGAGCAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009287	TGTGTATA others(45): Show TGTGTATATGTGTATATACACATGTGTGTATATGTGTATATGTGTATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0124 a0002c0013t0002g0124	1	126	0.0079	-52	c.93+ others(69): Show c.93+10800_93+10851delGTGTATATACACATATACACATATACAC ACATGTGTATATACACATATACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	746324	TCATGCCC others(45): Show TCATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACC CAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00558.hp2 others(136): Show HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0015 a0016	a0001c0001 a0001c0019 a0002c0002 others(5): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0005c0007 a0009c0015 a0015c0027 a0016c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0019t0004 a0002c0002t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0005c0007t0003 a0009c0015t0003 a0015c0027t0003 a0016c0028t0004	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 others(117): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0003g0318 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0237 a0001c0001t0006g0071 a0001c0001t0006g0074 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0104 a0001c0019t0004g0174 a0002c0002t0001g0033 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0110 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0153 a0003c0003t0003g0156 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0188 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0003g0193 a0003c0003t0003g0214 a0003c0003t0004g0109 a0003c0003t0007g0101 a0003c0003t0007g0102 a0003c0003t0007g0160 a0003c0003t0007g0161 a0003c0003t0007g0231 a0003c0003t0007g0232 a0003c0003t0008g0100 a0003c0003t0008g0154 a0003c0003t0008g0155 a0003c0003t0008g0180 a0005c0007t0003g0142 a0009c0015t0003g0181 a0015c0027t0003g0141 a0016c0028t0004g0173	139	363	0.3829	-52	c.102 others(71): Show c.1024+4975_1024+5026delCCTGTGACGCCCTCCTTACCGTCCTG CTGCCCCCCACCCAACATGCCCAGGG	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF5_chr7_721699_791475	746441	CTGTGACG others(45): Show CTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGG GTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01934.hp2 others(1): Show HG00323.hp1 HG00642.hp1 HG01934.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0005 a0002c0002t0001 a0003c0005t0005	a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0264 others(1): Show a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0264 a0003c0005t0005g0288	4	373	0.0107	-52	c.102 others(71): Show c.1024+5002_1024+5053delTGCCCCCCACCCAACATGCCCAGGGT TTGTGACGCCCTCCTTACCGTCCTGC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF6_chrX_107201611_107249247	107204793	ATTATTTA others(45): Show ATTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAAT TAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02257.hp2 others(10): Show HG01109.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097	13	256	0.0508	-52	c.-19 others(63): Show c.-1900_-1849delTTATTTAAATAAATTTTAAATAAATTATTTAAAT AAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1817		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225078791	TCTCTCTC others(45): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTC TCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02015.hp1 others(13): Show HG00642.hp2 HG01081.hp1 HG02015.hp1 HG02071.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG03017.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18955.hp2 NA18974.hp2 NA19056.hp2 NA19084.hp1	a0001 a0004 a0014 others(8): Show a0001 a0004 a0014 a0025 a0029 a0042 a0054 a0059 a0084 a0094 a0096	a0001c0001 a0004c0005 a0004c0032 others(9): Show a0001c0001 a0004c0005 a0004c0032 a0014c0017 a0025c0100 a0029c0031 a0042c0115 a0054c0108 a0059c0114 a0084c0105 a0094c0113 a0096c0092	a0001c0001t0001 a0004c0005t0001 a0004c0032t0001 others(9): Show a0001c0001t0001 a0004c0005t0001 a0004c0032t0001 a0014c0017t0001 a0025c0100t0001 a0029c0031t0001 a0042c0115t0001 a0054c0108t0001 a0059c0114t0001 a0084c0105t0001 a0094c0113t0001 a0096c0092t0001	a0001c0001t0001g0167 a0001c0001t0001g0182 a0004c0005t0001g0150 others(13): Show a0001c0001t0001g0167 a0001c0001t0001g0182 a0004c0005t0001g0150 a0004c0005t0001g0238 a0004c0032t0001g0145 a0004c0032t0001g0146 a0014c0017t0001g0111 a0025c0100t0001g0203 a0029c0031t0001g0236 a0029c0031t0001g0237 a0042c0115t0001g0192 a0054c0108t0001g0184 a0059c0114t0001g0191 a0084c0105t0001g0175 a0094c0113t0001g0190 a0096c0092t0001g0188	16	238	0.0672	-52	c.242 others(69): Show c.2425-400_2425-349delTCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCTCTCCCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335569	ATATACGC others(45): Show ATATACGCATATGTGCATATATGTATATACGCATACGTATATGTGTATAT ACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01261.hp2 others(26): Show HG00639.hp2 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03491.hp2 HG06807.hp1 NA18522.hp2 NA18999.hp1 NA19056.hp2 NA20300.hp2	a0008 a0010 a0016 others(13): Show a0008 a0010 a0016 a0027 a0029 a0031 a0032 a0033 a0041 a0047 a0048 a0052 a0061 a0068 a0080 a0090	a0008c0009 a0008c0049 a0010c0010 others(16): Show a0008c0009 a0008c0049 a0010c0010 a0016c0015 a0027c0024 a0029c0031 a0031c0037 a0031c0085 a0032c0075 a0033c0055 a0033c0057 a0041c0103 a0047c0077 a0048c0090 a0052c0088 a0061c0087 a0068c0116 a0080c0089 a0090c0050	a0008c0009t0001 a0008c0049t0001 a0010c0010t0001 others(16): Show a0008c0009t0001 a0008c0049t0001 a0010c0010t0001 a0016c0015t0001 a0027c0024t0001 a0029c0031t0001 a0031c0037t0001 a0031c0085t0001 a0032c0075t0001 a0033c0055t0001 a0033c0057t0001 a0041c0103t0001 a0047c0077t0001 a0048c0090t0001 a0052c0088t0001 a0061c0087t0001 a0068c0116t0001 a0080c0089t0001 a0090c0050t0001	a0008c0009t0001g0004 a0008c0009t0001g0005 a0008c0009t0001g0006 others(26): Show a0008c0009t0001g0004 a0008c0009t0001g0005 a0008c0009t0001g0006 a0008c0009t0001g0016 a0008c0049t0001g0008 a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 a0010c0010t0001g0033 a0016c0015t0001g0085 a0016c0015t0001g0086 a0016c0015t0001g0087 a0027c0024t0001g0038 a0027c0024t0001g0042 a0029c0031t0001g0236 a0029c0031t0001g0237 a0031c0037t0001g0100 a0031c0085t0001g0098 a0032c0075t0001g0001 a0033c0055t0001g0222 a0033c0057t0001g0224 a0041c0103t0001g0128 a0047c0077t0001g0219 a0048c0090t0001g0029 a0052c0088t0001g0027 a0061c0087t0001g0028 a0068c0116t0001g0240 a0080c0089t0001g0026 a0090c0050t0001g0096	29	238	0.1218	-52	c.100 others(73): Show c.10081-1696_10081-1645delTATACGCATATGTGCATATATGTA TATACGCATACGTATATGTGTATATACG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85			chr1	TogoVar
DNAH7_chr2_195732703_196073837	195982157	AAAAAGTG others(45): Show AAAAAGTGGGCAAATTATCTGAATAGATATTTTTCAAAAGACATACAAAT GGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0094 a0003c0004t0003g0094	1	254	0.0039	-52	c.183 others(71): Show c.1833+2423_1833+2474delGCCATTTGTATGTCTTTTGAAAAATA TCTATTCAGATAATTTGCCCACTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAI2_chr17_74269234_74319884	74301862	AGAAGGAA others(45): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18747.hp2 NA18944.hp1 others(2): Show HG04184.hp2 NA18747.hp2 NA18944.hp1 NA18952.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0002g0363	5	330	0.0152	-52	c.987 others(67): Show c.987+742_987+793delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301914	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	374	0.0027	-52	c.987 others(67): Show c.987+794_987+845delGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301962	GGAAAGAA others(45): Show GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19056.hp2 HG03225.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0002 a0001c0001t0001 a0002c0011t0002	a0001c0001t0001g0113 a0002c0011t0002g0362 a0001c0001t0001g0113 a0002c0011t0002g0362	2	379	0.0053	-52	c.987 others(67): Show c.987+798_987+849delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74319753	CCGTCTCA others(45): Show CCGTCTCAAAAAAAAAAAAAAAAATCATTGCTACTTGGAGATGGTCACCG ATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0004 a0005c0009t0001g0004	1	396	0.0025	-52	c.52 others(63): Show c.5221_*5272delCGTCTCAAAAAAAAAAAAAAAAATCATTGCTACT TGGAGATGGTCACCGATG	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding		4870		chr17	TogoVar
DNAJC12_chr10_67791669_67843188	67819687	AAAGAAAG others(45): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	277	0.0036	-52	c.157 others(69): Show c.157+3575_157+3626delCCTTCCTTCCTTCCTTCCTTGCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC18_chr5_139405203_139444525	139436269	TAGAGATA others(45): Show TAGAGATAATGTATTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGTC TCA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	312	0.0032	-52	c.227 others(69): Show c.227+1051_227+1102delTGAGACCAGGAGTTTGAGACCAGCCTGG GCAACACAGCAATACATTATCTCT	DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding	2/7			chr5	TogoVar
DOCK4_chr7_111721110_112211399	112066670	CATATACA others(45): Show CATATACATATATACATATACATATATATATATATATATATATATATATA TAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	62	0.0161	-52	c.38- others(69): Show c.38-62591_38-62540delATATATATATATATATATATATATATAT ATATGTATATGTATATATGTATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOK7_chr4_3458306_3499482	3476221	GCCCCGCC others(45): Show GCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTC TCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(71): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG03579.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0020 a0021	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0024 a0006c0006 a0007c0010 a0020c0025 a0021c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0012t0003 a0002c0002t0001 a0003c0003t0004 a0003c0003t0029 a0004c0004t0006 a0005c0024t0008 a0006c0006t0002 a0007c0010t0001 a0020c0025t0003 a0021c0021t0003	a0001c0001t0002g0202 a0001c0001t0002g0283 a0001c0001t0003g0006 others(60): Show a0001c0001t0002g0202 a0001c0001t0002g0283 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0064 a0001c0001t0003g0095 a0001c0001t0003g0161 a0001c0001t0003g0183 a0001c0001t0003g0197 a0001c0001t0003g0203 a0001c0001t0003g0217 a0001c0001t0003g0240 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0023g0322 a0001c0012t0003g0019 a0002c0002t0001g0050 a0002c0002t0001g0211 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0331 a0003c0003t0004g0279 a0003c0003t0004g0313 a0003c0003t0004g0321 a0003c0003t0004g0324 a0003c0003t0029g0157 a0004c0004t0006g0288 a0005c0024t0008g0272 a0006c0006t0002g0026 a0006c0006t0002g0204 a0006c0006t0002g0250 a0006c0006t0002g0273 a0006c0006t0002g0300 a0006c0006t0002g0310 a0007c0010t0001g0329 a0020c0025t0003g0342 a0021c0021t0003g0337	74	346	0.2139	-52	c.332 others(66): Show c.332-116_332-65delGCCTGCCCGTGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCTCACCCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 NA18906.hp2 NA18973.hp1 HG02145.hp2 NA18906.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0113 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0113	3	74	0.0405	-52	c.65 others(61): Show c.651_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	651		chr21	TogoVar
DPAGT1_chr11_119091510_119106853	119100144	CCTTATCT others(45): Show CCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCC CAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	420	0.0024	-52	c.643 others(66): Show c.643+66_643+117delTTGGGAAATTCAGGGGAAAAAAGCAATATGC ATAGTAATTATAGAAGATAAG	DPAGT1	ENSG00000172269.20	transcript	ENST00000354202.9	protein_coding	4/8			chr11	TogoVar
DPP9_chr19_4670227_4728842	4672234	CATATATA others(45): Show CATATATATGAATATATATTCATATATATGAATATATATATTAATATATT CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	304	0.0033	-52	c.42 others(63): Show c.4278_*4329delATGAATATATTAATATATATATTCATATATATGA ATATATATTCATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2992		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672286	TATATATA others(45): Show TATATATATACTTATATTCATATATTCATATATATACTTATATTCATATA TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	309	0.0032	-52	c.42 others(63): Show c.4226_*4277delGAATATATGAATATAAGTATATATATGAATATAT GAATATAAGTATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2940		chr19	TogoVar
DRC7_chr16_57689806_57736805	57729109	GATGGATG others(45): Show GATGGATGAGTGGGTGGGTAGATGGATGAATGGATGGATGGGTGGATGGA TGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(161): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0006 a0009 a0011 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025	a0002c0002 a0002c0012 a0002c0045 others(23): Show a0002c0002 a0002c0012 a0002c0045 a0003c0003 a0003c0017 a0003c0034 a0003c0035 a0004c0005 a0004c0015 a0004c0016 a0004c0018 a0004c0041 a0004c0043 a0006c0008 a0006c0010 a0009c0009 a0009c0020 a0011c0013 a0016c0031 a0017c0044 a0018c0029 a0019c0026 a0020c0027 a0023c0036 a0024c0039 a0025c0033	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(29): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0012t0002 a0002c0045t0002 a0003c0003t0001 a0003c0003t0006 a0003c0017t0001 a0003c0034t0001 a0003c0035t0001 a0004c0005t0001 a0004c0005t0003 a0004c0015t0001 a0004c0016t0001 a0004c0016t0003 a0004c0018t0001 a0004c0041t0001 a0004c0043t0001 a0006c0008t0003 a0006c0010t0003 a0009c0009t0002 a0009c0009t0004 a0009c0020t0002 a0011c0013t0001 a0016c0031t0001 a0017c0044t0003 a0018c0029t0003 a0019c0026t0008 a0020c0027t0001 a0023c0036t0001 a0024c0039t0001 a0025c0033t0001	a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 others(135): Show a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0022 a0002c0002t0002g0025 a0002c0002t0002g0090 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0127 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0146 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0158 a0002c0002t0002g0225 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0259 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0319 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0012t0002g0033 a0002c0012t0002g0308 a0002c0012t0002g0311 a0002c0045t0002g0243 a0003c0003t0001g0002 a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0134 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0159 a0003c0003t0001g0194 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0267 a0003c0003t0001g0299 a0003c0003t0006g0321 a0003c0017t0001g0030 a0003c0034t0001g0310 a0003c0035t0001g0237 a0004c0005t0001g0017 a0004c0005t0001g0018 a0004c0005t0001g0045 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0070 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0107 a0004c0005t0001g0246 a0004c0005t0001g0279 a0004c0005t0001g0291 a0004c0005t0003g0078 a0004c0005t0003g0252 a0004c0015t0001g0069 a0004c0015t0001g0074 a0004c0015t0001g0075 a0004c0016t0001g0295 a0004c0016t0003g0289 a0004c0018t0001g0169 a0004c0018t0001g0178 a0004c0041t0001g0052 a0004c0043t0001g0298 a0006c0008t0003g0015 a0006c0008t0003g0071 a0006c0008t0003g0101 a0006c0008t0003g0104 a0006c0008t0003g0105 a0006c0008t0003g0274 a0006c0008t0003g0280 a0006c0008t0003g0293 a0006c0010t0003g0015 a0006c0010t0003g0031 a0006c0010t0003g0102 a0006c0010t0003g0145 a0006c0010t0003g0297 a0009c0009t0002g0083 a0009c0009t0002g0213 a0009c0009t0004g0014 a0009c0009t0004g0073 a0009c0009t0004g0124 a0009c0020t0002g0072 a0011c0013t0001g0036 a0011c0013t0001g0222 a0011c0013t0001g0223 a0016c0031t0001g0147 a0017c0044t0003g0304 a0018c0029t0003g0084 a0019c0026t0008g0117 a0020c0027t0001g0106 a0023c0036t0001g0294 a0024c0039t0001g0163 a0025c0033t0001g0235	164	386	0.4249	-52	c.239 others(69): Show c.2391+596_2391+647delAGATGGATGAATGGATGGATGGGTGGAT GGATGAATGGATGAGTGGGTGGGT	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729290	ATGGATGA others(45): Show ATGGATGAGTGAGTGGGTGGATGGATGGATGAGTGGGTGGATGGATGGAT GGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0065 a0004c0005t0001g0065	1	386	0.0026	-52	c.239 others(69): Show c.2391+721_2391+772delGGTGGATGGATGGATGAGTGGGTGGATG GATGGATGGGTGGATGAGTGAGTG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUXA_chr19_57149021_57172485	57172030	GGGGGCGG others(45): Show GGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCG CGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG03453.hp1 NA19084.hp1 HG01258.hp2 HG03453.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0062 a0001c0001t0001g0113 a0001c0001t0002g0019 a0001c0001t0001g0062 a0001c0001t0001g0113 a0001c0001t0002g0019	3	421	0.0071	-52	c.-46 others(63): Show c.-4639_-4588delTCGCGCGCCCCCGCCCCCTCGCACGCCCCCGCCC CCTCGCACGCCCCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4546		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172053	GGGGGCGT others(45): Show GGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGG GGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	435	0.0023	-52	c.-46 others(63): Show c.-4662_-4611delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC CGCCCCCTCGCACGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4569		chr19	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	134	0.0075	-52	c.23 others(63): Show c.2383_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EFCAB9_chr5_172189172_172208454	172189813	GAAAGGAA others(45): Show GAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAA GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02280.hp1 others(11): Show HG00639.hp1 HG01884.hp2 HG02280.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	14	275	0.0509	-52	c.-43 others(63): Show c.-4359_-4308delAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGA GAAAGGGAAAGGAAAGGA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding		4358		chr5	TogoVar

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